GeneCytogenic LocationDiseaseBrief DescriptionSigns & SymptomsTest(s) Including This Gene
ABCD1Xq28X-linked adrenoleukodystrophy Adrenomyeloneuropathy Addison disease (X-ALD) X-linked adrenoleukodystrophy
Adrenomyeloneuropathy is a genetic disorder, effecting primarily males that negatively impacts the nervous system and the adrenal glands.
Cerebral form (childhood): learning and behavioral problems, aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal function.

Adrenomyeloneuropathy form (early adulthood to middle age): stiffness and weakness in the legs, urinary and genital tract disorders and changes in behavior and thinking ability.

Addison disease: adrenocortical insufficiency only.
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ABCD414q24.3Methylmalonic acidemia with
homocystinuria
Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol.When the condition begins early in life, affected individuals typically have an inability to grow and gain weight at the expected rate (failure to thrive), which is sometimes recognized before birth (intrauterine growth retardation). Neurological problems are also common in methylmalonic acidemia with homocystinuria, including weak muscle tone (hypotonia) and seizures. Most infants and children with this condition have an unusually small head size (microcephaly), delayed development, and intellectual disability. Newborn Panel

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ACAD811q25Isobutyryl-CoA dehydrogenase (IBD) deficiencyIsobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins.Most effected individuals do not experience symptoms. A few children with IBD deficiency have developed features such as a weakened and enlarged heart, weak muscle tone, developmental delay, and anemia. Newborn Panel

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ACADM1p31Medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyMedium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy.Signs and symptoms typically appear during infancy or early childhood and can include vomiting, lack of energy, and low blood sugar, seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death. Newborn Panel

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ACADS12q24.31Short-chain acyl-CoA dehydrogenase (SCAD) deficiencyShort-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energySigns and symptoms can include vomiting, low blood sugar (hypoglycemia), a lack of energy, poor feeding, failure to gain weight and grow at the expected rate, poor muscle tone, seizures, developmental delay, and a small head size. Newborn Panel

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ACADSB10q26.132-methylbutyryl-CoA dehydrogenase deficiency2-methylbutyryl-CoA dehydrogenase deficiency is a type of organic acid disorder in which the body is unable to process proteins properlyThe initial symptoms often include poor feeding, lack of energy, vomiting, and an irritable mood. These symptoms sometimes progress to serious medical problems such as difficulty breathing, seizures, and coma. Additional problems can include poor growth, vision problems, learning disabilities, muscle weakness, and delays in motor skills such as standing and walking. Newborn Panel

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ACADVL17p13.1Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiencyVery long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder in which the body is unable to convert very long-chain fatty acids into energy. Characteristic signs and symptoms of this disorder include lack of energy, and low blood sugar. Very long-chain fatty acids or partially metabolized fatty acids may also build up in tissues and damage the heart, liver, and muscles. Newborn Panel

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ACAT111q22.3Beta-ketothiolase deficiency (βKT)Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine.Signs and symptoms typically appear between the ages of six to 24 months. Episodes called ketoacidotic attacks may occur causing symptoms such as vomiting, dehydration, difficulty breathing, extreme lethargy, and occasionally seizures. Infections, fasting, or increased intake of protein rich foods frequently triggers these ketoacidotic attacks. Attacks can also lead to coma. Newborn Panel

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ACSF316q24.3Combined malonic and
methylmalonic aciduria (CMAM
MA)
Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body.The signs and symptoms of CMAMMA can begin in childhood. In some children, the buildup of acids causes the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs. Other signs and symptoms may include involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood sugar (hypoglycemia), and coma. Newborn Panel

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ADA20q13.12Severe combined immunodeficiency (SCID)Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID).The main symptoms arise due to a very weakened immune system and commonly include pneumonia, chronic diarrhea, and widespread skin rashes. Affected children tend to grow slower than healthy children and some experience developmental delay. Newborn Panel

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AHCY20q11.22Hypermethioninemia (MET)Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood.People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage. This disorder may also be caused by mutations in the GNMT and MAT1A genes.
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ARG16q23Arginase deficiency (ARG)Arginase deficiency (ARG) is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Arginase deficiency usually becomes evident by about the age of 3. It most often appears as stiffness, caused by abnormal tensing of the muscles, slow growth patterns, developmental delays, intellectual disabilities, seizures, tremors, and difficulty with coordination. Newborn Panel

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ASL7q11.21Argininosuccinic aciduria (ASA)Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood.Argininosuccinic aciduria usually becomes evident in the first few days of life. Symptoms include lack of energy, unwilling to eat, poorly controlled respiratory rate or body temperature, seizures, and coma. Newborn Panel

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ASPA17p13.2Canavan diseaseCanavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages.Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop.Carrier Panel
ASS19q34.1Citrullinemia (CIT) Type ICitrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood.Type I (classic citrullinemia): usually becomes evident in the first few days of life. Symptoms include lack of energy, poor feeding, vomiting, seizures, and loss of consciousness later in childhood or adulthood. This later-onset form is associated with intense headaches, partial loss of vision, problems with balance and muscle coordination (ataxia), and lethargy.
Type II is caused by mutations in the SLC25A13 gene.
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AUH9q22.313-methylglutaconic aciduria (3MGA) Type IThe name 3-methylglutaconic aciduria is used to describe five different disorders that impair the functioning of energy-producing centers within cells (mitochondria).There are five types of 3-methylglutaconic aciduria numbered I, II, III, IV and V.
Type I: Mutations in the AUH gene cause Type I 3-methylglutaconic aciduria. Symptoms include speech delay, delay in the development of mental and motor skills, elevated levels of acid in the blood, abnormal muscle tone, and spasms and weakness of the arms and legs
Types II, III, IV and IV are caused by mutations in the DNAJC19, OPA3, and TAZ genes.
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BCKDHA19q13.1-q13.2Maple Syrup Urine Disease (MSUD)Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly.Symptoms commonly begin in early infancy and include urine of a distinctive sweet odor, poor feeding, vomiting, lack of energy and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death. This disorder may also be caused by mutations in the BCKDHB, DBT, and DLD genes. Newborn Panel

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BCKDHB6q14.1Maple Syrup Urine Disease (MSUD)Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly.Symptoms commonly begin in early infancy and include urine of a distinctive sweet odor, poor feeding, vomiting, lack of energy and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death. This disorder may also be caused by mutations in the BCKDHA, DBT, and DLD genes. Newborn Panel

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BLM15q26.1Bloom syndromeBloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash. Other features can include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy.Carrier Panel
BTD3p25Biotinidase deficiency (BIOT)Biotinidase deficiency is an inherited disorder in which the body is unable to reuse and recycle the vitamin biotin.The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Symptoms often include seizures, muscle weakness, breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance, skin rashes, hair loss, and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications. Newborn Panel

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CBS21q22.3Homocystinuria (HCY)Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.Multiple forms of this disorder exist but most common symptoms include nearsightedness, dislocation of the lens at the front of the eye, increased risk of abnormal blood clotting, and brittle bones.
Although most often mutations in the CBS gene cause this disorder, it may also arise from mutations in the MTHFR, MTR, MTRR and MMADHC genes.
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CD32019p13.2Methylmalonic acidemia due to
transcobalamin receptor defect
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Newborn Panel

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CFTR7q31.2Cystic fibrosis (CF)Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs.The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM). Newborn Panel

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CPT1A11q13.2Carnitine palmitoyltransferase I deficiency (CPT IA)Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).Signs and symptoms of CPT I deficiency often appear during early childhood. Signs and symptoms include low blood sugar and low ketone levels, enlarged liver, liver malfunction, and elevated levels of carnitine in the blood. Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, seizures, coma, and sudden death. Newborn Panel

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CPT21p32Carnitine palmitoyltransferase II deficiency (CPT II)Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).Type I (Lethal Neonatal): Appears soon after birth with symptoms including respiratory failure, seizures, liver failure, various abnormal heart conditions, and hypoketotic hypoglycemia.
Type II (Severe Infantile Hepatocardiomuscular): Appears within the first year of life with symptoms including hypoketotic hypoglycemia, seizures, enlarged liver, and various abnormal heart conditions.
Type II (Myopathic): Characterized by reoccurring muscle pain and weakness and discolored urine.
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CYP21A26p21.321-hydroxylase deficiency (CAH)21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. Three types of this disorder include the salt-wasting, simple virilizing, and non-classic types. Signs and symptoms for the salt-wasting type include low hormone production, loss of sodium in urine, poor feeding, weight loss, dehydration, and vomiting. Females with the salt-wasting and simple virilizing forms typically have external genitalia that do not look clearly female or male. Individuals with these forms may also experience decreased fertility and other hormone related symptoms. Newborn Panel

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DBT1p31Maple Syrup Urine Disease (MSUD)Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly.Symptoms commonly begin in early infancy and include urine of a distinctive sweet odor, poor feeding, vomiting, lack of energy and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death. This disorder may also be caused by mutations in the BCKDHA, BCKDHB, and DLD genes. Newborn Panel

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DLD7q31-q32Maple Syrup Urine Disease (MSUD)Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly.Symptoms commonly begin in early infancy and include urine of a distinctive sweet odor, poor feeding, vomiting, lack of energy and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death. This disorder may also be caused by mutations in the BCKDHA, BCKDHB, and DBT genes. Newborn Panel

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DNAJC193q26.333-methylglutaconic aciduria (3MGA) Type VThe name 3-methylglutaconic aciduria is used to describe five different disorders that impair the functioning of energy-producing centers within cells (mitochondria).There are five types of 3-methylglutaconic aciduria numbered I, II, III, IV and V.
Type V: Mutations in the DNAJC19 gene cause Type V 3-methylglutaconic aciduria. Symptoms include an enlarged and weakened heart, inability to control voluntary muscle movements, growth failure, mild intellectual disability and optic atrophy
Types I, II, III, and V are caused by mutations in the AUH, OPA3, and TAZ genes.
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DUOX215q15.3Congenital hypothyroidism (CH)Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism).If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth.
Other genes that may cause congenital hypothyroidism include the PAX8, SLC5A5, TG, THRA, THRB, TPO, TSHB, and TSHR genes.
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ETFA15q23-q25Glutaric acidemia type II (GA2)Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy.Due to buildup of incompletely processed proteins and fats symptoms can arise including weakness, poor feeding, decreased activity, and vomiting. Other abnormalities include brain malformations, an enlarged liver, a weakened and enlarged heart, fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities.
Mutations in the ETFB and ETFDH genes can also cause this disorder.
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ETFB19q13.3Glutaric acidemia type II (GA2)Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy.Due to buildup of incompletely processed proteins and fats symptoms can arise including weakness, poor feeding, decreased activity, and vomiting. Other abnormalities include brain malformations, an enlarged liver, a weakened and enlarged heart, fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities.
Mutations in the ETFA and ETFDH genes can also cause this disorder.
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ETFDH4q32-q35Glutaric acidemia type II (GA2)Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy.Due to buildup of incompletely processed proteins and fats symptoms can arise including weakness, poor feeding, decreased activity, and vomiting. Other abnormalities include brain malformations, an enlarged liver, a weakened and enlarged heart, fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities.
Mutations in the ETFA and ETFB genes can also cause this disorder.
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FAH15q25.1Tyrosinemia (TYR I, II, III)Tyrosinemia is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine.Type 1: Symptoms include failure to thrive, diarrhea, vomiting, jaundice, cabbage odor, and nosebleeds. Can lead to liver and kidney failure and impact the nervous system.
Type II: Symptoms include excessive tearing, sensitivity to light, eye pain, redness, and intellectual disability.
Type III: Symptoms include Intellectual disability, seizures, and loss of balance.

Mutations in the HPD, and TAT genes may also cause tyrosinemia.
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G6PC17q21.31Glycogen storage disease type
Ia (GSDIa)
Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells.Signs and symptoms of this condition typically appear around the age of 3 or 4 months, when babies start to sleep through the night and do not eat as frequently as newborns. Affected infants may have low blood sugar (hypoglycemia), which can lead to seizures. They can also have a buildup of lactic acid in the body (lactic acidosis), high blood levels of a waste product called uric acid (hyperuricemia), and excess amounts of fats in the blood (hyperlipidemia). Carrier Panel
G6PDXq28Glucose-6-phosphate dehydrogenase deficiencyGlucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is an inherited condition of the blood. Individuals with G6PD deficiency usually show no signs or symptoms of the condition until they are exposed to certain medications, foods or infections. These exposures can trigger the red blood cells, which carry oxygen around the body, to break down prematurely. Signs of glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) can begin any time from infancy to adulthood and vary in severity.

Signs of G6PD deficiency include: Paleness, Yellow skin tone (Jaundice), Dark urine, Tiredness, Shortness of breath and Rapid heart rate.
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GAA17q25.2-25.3Pompe disease (GAA deficiency)Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells causing an inability to function properly. Type I (Classic): Onset begins within a few months and triggers symptoms such as muscle weakness, enlarged liver, and heart defects. If untreated, this form leads to death within the first year of life.
Type II (Non-classic): Typically appears by the age of one with characteristics including delayed motor skills and progressive muscle weakness. This form can cause death within early childhood.
Type III (Late-onset): May not become apparent until adulthood and may cause muscle weakness and progressively worsening breathing problems.
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GALC14q31Krabbe DiseaseKrabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system.Symptoms usually arise before the age of one and include irritability, muscle weakness, feeding problems, fever, and slowed mental and physical development, vision loss and seizures. Newborn Panel

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GALE1p36-p35Galactosemia Type IIIGalactosemia is a disorder that prevents the body from processing a simple sugar called galactose into energy. Type III: Symptoms include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.

Type I and II are caused by mutations in the GALK1 and GALT genes.
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GALK117q24Galactosemia Type IIGalactosemia is a disorder that prevents the body from processing a simple sugar called galactose into energy. Type II: Affected infants may develop cataracts, but otherwise experience few additional complications.
Type I and III are caused by mutations in the GALE and GALT genes.
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GALT9p13Galactosemia Type IGalactosemia is a disorder that prevents the body from processing a simple sugar called galactose into energy. Type I: This is the most common and most severe form of the disorder. If infants are not promptly treated complications can arise within the first few days of life. Complications include feeding difficulties, lack of energy, failure to thrive, jaundice, liver damage and bleeding.
Type II and III are caused by mutations in the GALE and GALT genes.
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GBA1q21Gaucher disease (Types I, II, & III)Gaucher disease is an inherited disorder that affects many of the body's organs and tissues.Type I (Non-neuronopathic): Characteristics include enlarged liver and spleen, anemia, easy bruising caused by decreased platelets, lung disease and bone abnormalities.
Types II & III (Neuronopathic): Both forms have similar symptoms to Type I but additionally affect the central nervous system. Additional conditions may include abnormal eye movements, seizures and brain damage.
Perinatal Lethal: The most severe form that causes life-threatening complications including extensive swelling, skin abnormalities, and neurological complications.
Cardiovascular: Causes hardening of heart valves, eye abnormalities, and bone diseases.
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GCDH19p13.2Glutaric acidemia Type I
(GA1)

Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. Most often signs and symptoms first occur in infancy and early childhood. Symptoms vary from mild to severe and may result in poor motor control and intellectual disability. Some individuals develop bleeding in the brain or eyes. Newborn Panel

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GCH114q22.1-q22.2Disorders of biopterin regenerationTetrahydrobiopterin deficiency is a rare disorder characterized by a shortage of a molecule called tetrahydrobiopterin, which leads to an increased level of phenylalanine in the body. Infants with this deficiency often appear normal at birth but over time begin to exhibit mild to severe symptoms and signs such as intellectual disability, developmental problems, movement disorders, difficulty swallowing, seizures, behavioral problems, and inability to control body temperature. Newborn Panel

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GJB213q11-q12Hearing Loss
Nonsyndromic deafness
Several conditions can cause hearing damage or loss in infants. Listed are the disorders caused by mutations in the GJB2 gene. Damage to inner ear structure resulting in permanent hearing loss.
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GJB31p34Hearing Loss
Nonsyndromic deafness
Several conditions can cause hearing damage or loss in infants. Listed are the disorders caused by mutations in the GJB3 geneDamage to inner ear structure resulting in permanent hearing loss. Newborn Panel

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GJB613q12Hearing Loss
Nonsyndromic deafness
Several conditions can cause hearing damage or loss in infants. Listed are the disorders caused by mutations in the GJB3 geneDamage to inner ear structure
resulting in permanent hearing loss.
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GLAXq22Fabry diseaseFabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells.With disorder characters beginning in childhood, complications may include life-threatening kidney damage, heart attack and stroke. Symptoms include pain in hands and feet, dark red spots on skin, decreased ability to sweat, corneal opacity, ear ringing, gastrointestinal problems. Newborn Panel

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GNMT6p12Hypermethioninemia (MET)Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood.Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. Newborn Panel

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HADH4q22-q263-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD)3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).Characteristics of this disorder typically arise during infancy or early childhood. Signs and symptoms include muscle weakness, poor appetite, vomiting, diarrhea, lethargy, liver problems, low blood sugar, seizures, life-threatening heart and breaking problems, coma, and sudden death (SIDS). Newborn Panel

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HADHA2p23Trifunctional protein deficiency (TFP)(I) Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency prevents the body from converting certain fats to energy.

(II) Mitochondrial trifunctional protein deficiency prevents the body from converting certain fats into energy.
(I) Symptoms include feeding difficulties, lethargy, low blood sugar, weak muscle tone, retinal abnormalities. May experience muscle pain or breakdown of muscle tissue and loss of sensation in arms and legs.
(II) Symptoms include feeding difficulties, lethargy, low blood sugar, and liver problems. High risk for heart problems, breathing difficulty, coma and sudden death. This disorder can also arise from mutations in the HADHB gene.
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HADHB2p23Trifunctional protein deficiency (TFP)Mitochondrial trifunctional protein deficiency prevents the body from converting certain fats into energy.Symptoms include feeding difficulties, lethargy, low blood sugar, and liver problems. High risk for heart problems, breathing difficulty, coma and sudden death. This disorder can also arise from mutations in the HADHA gene. Newborn Panel

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HBA116p13.3Alpha thalassemia (Hemoglobin Disorder-Var-Hb)Alpha thalassemia is a blood disorder that reduces the production of hemoglobin.This disorder causes a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, along with other complications.

Two types have been observed:
(I) Hb Bart: characterized by severe anemia, enlarged liver and spleen, heart defects, abnormalities of urinary system or genitalia.

(II) HbH: Characterized by mild to moderate anemia, jaundice, overgrowth of jaw or prominent forehead.

This disorder can also be caused by mutations in the HBA2 gene.
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HBA216p13.3Alpha thalassemia (Hemoglobin Disorder-Var-Hb)Alpha thalassemia is a blood disorder that reduces the production of hemoglobin.This disorder causes a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, along with other complications.
Two types have been observed:
(I) Hb Bart: characterized by severe anemia, enlarged liver and spleen, heart defects, abnormalities of urinary system or genitalia.
(II) HbH: Characterized by mild to moderate anemia, jaundice, overgrowth of jaw or prominent forehead.
This disorder can also be caused by mutations in the HBA1 gene.
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HBB11p15.5 (I ) Sickle cell disease

(II) Metheglobinemia, beta-globin type

(III) Beta thalassemia:
thalassemia major and thalassemia intermedia
All three disorders affect the production or function of hemoglobin. Symptoms of the different disorders are as follows:

(1) Anemia, repeated infections, periodic episodes of pain.
(2) Bluish appearance of the skin, mucous membranes, or area under the fingernails.
(3) Anemia, pale skin, weakness, fatigue, risk of abnormal blood clots, enlarged spleen, liver, and heart.
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HCFC1Xq28Methylmalonic acidemia with
homocystinuria
Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol.When the condition begins early in life, affected individuals typically have an inability to grow and gain weight at the expected rate (failure to thrive), which is sometimes recognized before birth (intrauterine growth retardation). Neurological problems are also common in methylmalonic acidemia with homocystinuria, including weak muscle tone (hypotonia) and seizures. Most infants and children with this condition have an unusually small head size (microcephaly), delayed development, and intellectual disability. Newborn Panel

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HEXA15q23Tay-Sachs diseaseTay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.The most common form of Tay-Sachs disease becomes apparent in infancy. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder.Carrier Panel
HLCS21q22.13Multiple Carboxylase Deficiency (MCD)Another name for MCD is holocarboxylase synthetase deficiency, a disorder where the body is unable to use the vitamin biotin effectively. The signs and symptoms of this disorder generally appear within the first few months of life. They include breathing problems, skin rash, hair loss, lethargy. Biotin supplements may prevent complications. Newborn Panel

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HMGCL1p36.1-p353-hydroxy-3-methylglutaryl-CoA lyase deficiency
(HMG)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine.Characteristics of this disorder generally arise within the first year of life. Signs and symptoms include vomiting, diarrhea, dehydration, lethargy, weak muscle tone, hypoglycemia. Can lead to breathing problems, convulsions, coma and death. Commonly mistaken for Reye syndrome. Newborn Panel

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HPD12q24.31Tyrosinemia (TYR I, II, III)Tyrosinemia is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine.Type 1: Symptoms include failure to thrive, diarrhea, vomiting, jaundice, cabbage odor, and nosebleeds. Can lead to liver and kidney failure and impact the nervous system.
Type II: Symptoms include excessive tearing, sensitivity to light, eye pain, redness, and intellectual disability.
Type III: Symptoms include Intellectual disability, seizures, and loss of balance.

Mutations in the FAH and TAT genes may also cause tyrosinemia.
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HSD17B10Xp11.23-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency (2M3HBA)Another name for 2M3HBA is 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. This disorder is more severe in males. Normal early development, but experience developmental regression around age 5 resulting in intellectual disability and loss of motor skills. Hearing and vision loss may also occur. Newborn Panel

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IDUA4p16.3Mucopolysaccharidosis Type I (MPS I)Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body.Typically no signs and symptoms are present at birth. Other characteristics of the disorder that slowly progress include large head, fluid in the brain, heart abnormalities, large tongue, upper respiratory infection, clouding of cornea resulting in vision loss, and hearing loss. Severely affected individuals eventually lose basic motor skills. Newborn Panel

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IKBKAP9q31.3Familial dysautonomiaFamilial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of the spine (scoliosis), poor bone quality and increased risk of bone fractures, and kidney and heart problems. Carrier Panel
IL2RGXq13.1X-linked severe combined immunodeficiency (SCID)X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males.Individuals with this disorder are prone to infection, which may cause life-threatening illnesses. May experience chronic diarrhea or skin rashes. Newborn Panel

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IVD15q14-q15Isovaleric acidemia (IVA)Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properlyCases vary from mild to life threatening and in severe cases the features of the disorder become apparent within days after birth. Symptoms include poor feeding, vomiting, seizures, lethargy, coma and possibly death. An odor of sweaty feet is present with acute illness. Newborn Panel

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MAT1A10q22Hypermethioninemia (MET)Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood.People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage. This disorder may also be caused by mutations in the AHCY and GNMT genes.
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MCCC13q273-methylcrotonyl-CoA carboxylase deficiency
(3-MCC)
3-methylcrotonyl-CoA carboxylase deficiency is an inherited disorder in which the body is unable to process certain proteins properly.Affected infants often appear normal at birth but develop signs and symptoms in infancy or early childhood. Symptoms include vomiting and diarrhea, lethargy, weak muscle tone, delayed development, seizures and coma. Many problems can be prevented with early detection. This disorder may also be caused my mutations in the MCCC2 gene. Newborn Panel

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MCCC25q12-q133-methylcrotonyl-CoA carboxylase deficiency
(3-MCC)

3-methylcrotonyl-CoA carboxylase deficiency is an inherited disorder in which the body is unable to process certain proteins properly.Affected infants often appear normal at birth but develop signs and symptoms in infancy or early childhood. Symptoms include vomiting and diarrhea, lethargy, weak muscle tone, delayed development, seizures and coma. Many problems can be prevented with early detection. This disorder may also be caused my mutations in the MCCC1 gene. Newborn Panel

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MCEE2p13.3Methylmalonic acidemia Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.Effects of the disorder, which normally arise during infancy, range from mild to life threatening. Symptoms include vomiting, dehydration, weak muscle tone, developmental delay, lethargy, enlarged liver, failure to thrive. Long-term complications can lead to intellectual disability, kidney disease, and pancreatitis and can lead to coma or death. This disorder may also arise due to mutations in the MUT, MMAA, MMAB, and MMADHC genes. Newborn Panel

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MCOLN119p13.2Mucolipidosis type IVMucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time.People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay). Motor skills include sitting, standing, walking, grasping objects, and writing. Psychomotor delay is moderate to severe and usually becomes apparent during the first year of life. Affected individuals have intellectual disability, limited or absent speech, difficulty chewing and swallowing, weak muscle tone (hypotonia) that gradually turns into abnormal muscle stiffness (spasticity), and problems controlling hand movements.Carrier Panel
MLYCD16q24Malonyl-CoA decarboxylase deficiency (MAL)Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy.Symptoms appear in early childhood and result in delayed development, weak muscle tone, seizures, diarrhea, vomiting, low blood sugar, and cardiomyopathy. Newborn Panel

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MMAA4q31.21Methylmalonic acidemia (cblA)Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.Effects of the disorder, which normally arise during infancy, range from mild to life threatening. Symptoms include vomiting, dehydration, weak muscle tone, developmental delay, lethargy, enlarged liver, failure to thrive. Long-term complications can lead to intellectual disability, kidney disease, and pancreatitis and can lead to coma or death. This disorder may also arise due to mutations in the MCEE, MUT, MMAB, and MMADHC genes. Newborn Panel

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MMAB12q24Methylmalonic acidemia (cblB)Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.Effects of the disorder, which normally arise during infancy, range from mild to life threatening. Symptoms include vomiting, dehydration, weak muscle tone, developmental delay, lethargy, enlarged liver, failure to thrive. Long-term complications can lead to intellectual disability, kidney disease, and pancreatitis and can lead to coma or death. This disorder may also arise due to mutations in the MCEE, MUT, MMAA, and MMADHC genes. Newborn Panel

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MMACHC1p34.1 (I) Methylmalonic acidemia (cblC)

(II) Homocystinuria (HCY)
(I) Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.

(II) Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.
(I) Effects of the disorder, which normally arise during infancy, range from mild to life-threatening. Symptoms include vomiting, dehydration, weak muscle tone, developmental delay, lethargy, enlarged liver, failure to thrive. Long-term complications can lead to intellectual disability, kidney disease, and pancreatitis and can lead to coma or death. This disorder may also arise due to mutations in the MMADHC, MCEE, MUT, MMAA, and MMAB genes.

(II) Multiple forms of this disorder exist but most common symptoms include nearsightedness, dislocation of the lens at the front of the eye, increased risk of abnormal blood clotting, and brittle bones.
Although most often mutations in the CBS gene cause this disorder, it may also arise from mutations in the MMADHC, CBS, MTHFR, MTR, and MTRR.
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MMADHC2q23.2(I) Methylmalonic acidemia (cblD)

(II) Homocystinuria (HCY)
(I) Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.

(II) Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.
(I) Effects of the disorder, which normally arise during infancy, range from mild to life threatening. Symptoms include vomiting, dehydration, weak muscle tone, developmental delay, lethargy, enlarged liver, failure to thrive. Long-term complications can lead to intellectual disability, kidney disease, and pancreatitis and can lead to coma or death. This disorder may also arise due to mutations in the MCEE, MUT, MMAA, and MMAB genes.

(II) Multiple forms of this disorder exist but most common symptoms include nearsightedness, dislocation of the lens at the front of the eye, increased risk of abnormal blood clotting, and brittle bones.
Although most often mutations in the CBS gene cause this disorder, it may also arise from mutations in the CBS, MTHFR, MTR, and MTRR.
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MTHFR1p36.3Homocystinuria (HCY)Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.Multiple forms of this disorder exist but most common symptoms include nearsightedness, dislocation of the lens at the front of the eye, increased risk of abnormal blood clotting, and brittle bones.
Although most often mutations in the CBS gene cause this disorder, it may also arise from mutations in the CBS, MTR, MTRR and MMADHC genes.
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MTR1q43Homocystinuria (HCY)Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.Multiple forms of this disorder exist but most common symptoms include nearsightedness, dislocation of the lens at the front of the eye, increased risk of abnormal blood clotting, and brittle bones.
Although most often mutations in the CBS gene cause this disorder, it may also arise from mutations in the CBS, MTHFR, MTRR and MMADHC genes.
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MTRR5p15.31Homocystinuria (HCY)Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.Multiple forms of this disorder exist but most common symptoms include nearsightedness, dislocation of the lens at the front of the eye, increased risk of abnormal blood clotting, and brittle bones.
Although most often mutations in the CBS gene cause this disorder, it may also arise from mutations in the CBS, MTHFR, MTR, and MMADHC genes.
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MUT6p12.3Methylmalonic acidemia (MUT)Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.Effects of the disorder, which normally arise during infancy, range from mild to life threatening. Symptoms include vomiting, dehydration, weak muscle tone, developmental delay, lethargy, enlarged liver, failure to thrive. Long-term complications can lead to intellectual disability, kidney disease, and pancreatitis and can lead to coma or death. This disorder may also arise due to mutations in the MCEE, MMAA, MMAB, and MMADHC genes. Newborn Panel

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NPC118q11.2Niemann-Pick disease (Type C1)Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body.Niemann-Pick disease is divided into four main types: A, B, C1 and C2. Mutations in the NPC1 gene are responsible for type C1. Symptoms for this form usually appear in childhood and often include severe liver disease, breathing difficulties, developmental delay, seizures, poor muscle tone, lack of coordination, problems feeding, and inability to move the eyes vertically. Type A and B are caused by mutations in the SMPD1 gene and type C2 is caused by mutations in the NPC2 gene. Newborn Panel

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NPC214q24.3Niemann-Pick disease (Type C2)Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body.Niemann-Pick disease is divided into four main types: A, B, C1 and C2. Mutations in the NPC2 gene are responsible for type C2. Symptoms for this form usually appear in childhood and often include severe liver disease, breathing difficulties, developmental delay, seizures, poor muscle tone, lack of coordination, problems feeding, and inability to move the eyes vertically. Type A and B are caused by mutations in the SMPD1 gene and type C1 is caused by mutations in the NPC1 gene. Newborn Panel

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OPA319q13.323-methylglutaconic aciduria (3MGA) Type IThe name 3-methylglutaconic aciduria is used to describe five different disorders that impair the functioning of energy-producing centers within cells (mitochondria).There are five types of 3-methylglutaconic aciduria numbered I, II, III, IV and V.
Type III (Costeff Optic Syndrome): Mutations in the OPA3 gene cause the Type III form of this disorder which is characterized by degeneration of the optic nerves, inability to maintain posture, poor muscle tone, gradual increase in involuntary jerking movements, and general decrease in cognitive function.
Types I, II, IV and IV are caused by mutations in the AUH, DNAJC19, and TAZ genes.
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OTCXp21.1Ornithine Transcarbamylase Deficiency (OTC)Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ornithine transcarbamylase deficiency (OTC) varies widely in its severity and age of onset. Most babies develop signs of OTC within the first few days of life. However, some individuals with OTC may not show any signs or symptoms until later in life. These later onset cases are usually less severe than those that develop in infancy. Newborn Panel

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PAH12q22-q24.2Phenylketonuria (PKU)Phenylketonuria is an inherited disorder that increases the levels of a substance called phenylalanine in the blood.Classic PKU presents normally until the infant is a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Other, less severe forms have a smaller risk of brain damage. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Newborn Panel

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PAX82q13Congenital hypothyroidism (CH)Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism).If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth.
Other genes that may cause congenital hypothyroidism include the DUOX2, SLC5A5, TG, THRA, THRB, TPO, TSHB, and TSHR genes.
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PCBD110q22Disorders of biopterin regenerationTetrahydrobiopterin deficiency is a rare disorder characterized by a shortage of a molecule called tetrahydrobiopterin, which leads to an increased level of phenylalanine in the body. Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage of a molecule called tetrahydrobiopterin, which leads to an increased level of phenylalanine in the body. Newborn Panel

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PCCA13q32Propionic acidemia (PROP)Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly.Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. Newborn Panel

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PCCB3q21-q22Propionic acidemia (PROP)Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly.Within the first few days of life initial symptoms may arise including poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. This condition can also be caused by mutation in the PCCA gene. Newborn Panel

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PTS11q22.3Disorders of biopterin regenerationTetrahydrobiopterin deficiency is a rare disorder characterized by a shortage of a molecule called tetrahydrobiopterin, which leads to an increased level of phenylalanine in the body. Infants with this deficiency often appear normal at birth but over time begin to exhibit mild to severe symptoms and signs such as intellectual disability, developmental problems, movement disorders, difficulty swallowing, seizures, behavioral problems, and inability to control body temperature. Newborn Panel

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QDPR4p15.31Disorders of biopterin regenerationTetrahydrobiopterin deficiency is a rare disorder characterized by a shortage of a molecule called tetrahydrobiopterin, which leads to an increased level of phenylalanine in the body. Infants with this deficiency often appear normal at birth but over time begin to exhibit mild to severe symptoms and signs such as intellectual disability, developmental problems, movement disorders, difficulty swallowing, seizures, behavioral problems, and inability to control body temperature. Newborn Panel

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SLC22A55q23.3Primary carnitine deficiency (CUD)Primary carnitine deficiency is a condition that prevents the body from using certain fats.Signs and symptoms typically appear during infancy or early childhood and can include severe brain dysfunction, a weakened and enlarged heart, confusion, vomiting, muscle weakness, and low blood sugar, heart failure, liver problems, and sudden death. Newborn Panel

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SLC25A137q21.3Citrullinemia Type II (CIT II)Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood.Type I: Caused by mutations in the ASS1 gene.
Type II: Caused by mutations in the SLC25A13 gene and chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma.
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SLC25A203p21.31Carnitine-acylcarnitine translocase (CACT)Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).Many infants with CACT deficiency do not survive the newborn period without treatment. Signs and symptoms include low blood sugar, low levels of ketones, excess ammonia in the blood, enlarged liver, and weakened heart muscles. Newborn Panel

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SLC26A47q22.3Pendred syndromePendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter.In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. An inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome. Some affected individuals also have problems with balance caused by dysfunction of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation. Some affected individuals also have an abnormally shaped cochlea, which is a snail-shaped structure in the inner ear that helps process sound. Carrier Panel
SLC5A519p13.11Congenital hypothyroidism (CH)Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism).If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth.
Other genes that may cause congenital hypothyroidism include the DUOX2, PAX8, TG, THRA, THRB, TPO, TSHB, and TSHR genes.
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SMPD111p15.4Niemann-Pick disease (Type A & B)Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body.Niemann-Pick disease is divided into four main types: A, B, C1 and C2. Mutations in the SMPD1 gene are responsible for types A and B. Symptoms for this form usually appear in childhood and often include severe liver disease, breathing difficulties, developmental delay, seizures, poor muscle tone, lack of coordination, problems feeding, and inability to move the eyes vertically. Newborn Panel

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TAT16q22.1Tyrosinemia (TYR I, II, III)Tyrosinemia is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine.Type 1: Symptoms include failure to thrive, diarrhea, vomiting, jaundice, cabbage odor, and nosebleeds. Can lead to liver and kidney failure and impact the nervous system.
Type II: Symptoms include excessive tearing, sensitivity to light, eye pain, redness, and intellectual disability.
Type III: Symptoms include Intellectual disability, seizures, and loss of balance.

Mutations in the FAH and HPD genes may also cause tyrosinemia.
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TAZXq283-methylglutaconic aciduria (3MGA) Type IThe name 3-methylglutaconic aciduria is used to describe five different disorders that impair the functioning of energy-producing centers within cells (mitochondria).There are five types of 3-methylglutaconic aciduria numbered I, II, III, IV and V.
Type II (Barth Syndrome): Mutations in the TAZ gene cause the Type II form of this disorder, which is characterized by, and enlarge and weakened heart, reoccurring infections, muscle weakness, and muscle spasms.
Types I, III, IV and IV are caused by mutations in the AUH, DNAJC19, and OPA3 genes.
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TCN222q12.2Transcobalamin deficiencyTranscobalamin deficiency is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within the body. The first signs of transcobalamin deficiency are typically a failure to gain weight and grow at the expected rate (failure to thrive), vomiting, diarrhea, and open sores (ulcers) on the mucous membranes such as the lining inside the mouth. Neurological function is impaired in affected individuals, and they can experience progressive stiffness and weakness in their legs (paraparesis), muscle twitches (myoclonus), or intellectual disability. Newborn Panel

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TG8q24Congenital hypothyroidism (CH)Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism).If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth.
Other genes that may cause congenital hypothyroidism include the DUOX2, PAX8, SLC5A5, THRA, THRB, TPO, TSHB, and TSHR genes.
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THRA17q21.1Congenital hypothyroidism (CH)Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism).If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. Other genes that may cause congenital hypothyroidism include the DUOX2, PAX8, SLC5A5, TG, THRB, TPO, TSHB, and TSHR genes.
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THRB3p24.2Congenital hypothyroidism (CH)Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism).If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. Other genes that may cause congenital hypothyroidism include the DUOX2, PAX8, SLC5A5, TG, THRA, TPO, TSHB, and TSHR genes.
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TPO2p25Congenital hypothyroidism (CH)Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism).If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth.
Other genes that may cause congenital hypothyroidism include the DUOX2, PAX8, SLC5A5, TG, THRA, THRB, TSHB, and TSHR genes.
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TSHB1p13Congenital hypothyroidism (CH)Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism).If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth.
Other genes that may cause congenital hypothyroidism include the DUOX2, PAX8, SLC5A5, TG, THRA, THRB, TPO, and TSHR genes.
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TSHR14q31Congenital hypothyroidism (CH)Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism).If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth.
Other genes that may cause congenital hypothyroidism include the DUOX2, PAX8, SLC5A5, TG, THRA, THRB, TPO, and TSHB genes.
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