At a Glance
Progressive familial intrahepatic cholestasis 2;
3 Methylcrotonyl-CoA carboxylase 1 deficiency;
3 beta-Hydroxysteroid dehydrogenase deficiency
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Progressive familial intrahepatic cholestasis 2
3 Methylcrotonyl-CoA carboxylase 1 deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency
3-Methylglutaconic aciduria type 3
3-methylcrotonyl CoA carboxylase 2 deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency
Abetalipoproteinaemia
Abnormal blistering of the skin
Abnormal eyebrow morphology
Abnormal hair quantity
Abnormality of coagulation
Abnormality of female external genitalia
Abnormality of female internal genitalia
Abnormality of immune system physiology
Abnormality of leukocytes
Abnormality of neutrophils
Abnormality of the acetabulum
Abnormality of the fingernails
Abnormality of the metacarpal bones
Abnormality of the nail
Abnormality of the oral cavity
Abnormality of the palate
Abnormality of the pharynx
Abnormality of the skin
Abnormality of the testis
Absent earlobe
Absent radius
Accessory spleen
Achondrogenesis, type IB
Achromatopsia 3
Acute lymphoid leukemia
Acute neuronopathic Gaucher's disease
Acyl-CoA dehydrogenase family, member 9, deficiency of
Adult hypophosphatasia
Adult junctional epidermolysis bullosa
Adult neuronal ceroid lipofuscinosis
Age-related macular degeneration 5
Aicardi Goutieres syndrome 5
Alkaptonuria
Alopecia
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Alport syndrome 3, autosomal dominant
Alport syndrome, autosomal recessive
Alstrom syndrome
Aminoglycoside-induced deafness
Anauxetic dysplasia 1
Andermann syndrome
Anemia
Ankle contracture
Anonychia
Aplasia of the ulna
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the thumb
Aplastic anemia
Aplastic/hypoplastic toenail
Areflexia
Arginase deficiency
Argininosuccinate lyase deficiency
Aromatase deficiency
Arthrogryposis multiplex congenita
Aseptic necrosis
Asparagine synthetase deficiency
Aspartylglucosaminuria
Asthma
Ataxia with vitamin E deficiency
Ataxia-telangiectasia syndrome
Atelosteogenesis type 2
Atrial septal defect
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Autosomal recessive polycystic kidney disease
Bardet-Biedl syndrome
Bare lymphocyte syndrome 2
Bartter syndrome type 4
Benign familial hematuria
Benign recurrent intrahepatic cholestasis 2
Bernard Soulier syndrome
Bernard-Soulier syndrome, type A2, autosomal dominant
Beta-thalassemia, dominant inclusion body type
Bicornuate uterus
Bifunctional peroxisomal enzyme deficiency
Biliary tract abnormality
Bilirubin, serum level of, quantitative trait locus 1
Biotinidase deficiency
Bloom syndrome
Blue sclerae
Bone marrow hypocellularity
Bowing of the long bones
Brachycephaly
Brachydactyly
Broad neck
Bronchiectasis with or without elevated sweat chloride 1
COACH syndrome
Cafe-au-lait spot
Carbohydrate-deficient glycoprotein syndrome type I
Carious teeth
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase II deficiency, infantile
Carnitine palmitoyltransferase II deficiency, lethal neonatal
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Carpenter syndrome
Cataract
Cellular immunodeficiency
Central sleep apnea syndrome
Cerebellar ataxia infantile with progressive external ophthalmoplegia
Cerebral atrophy
Cerebral calcification
Cerebral cortical atrophy
Cerebro-oculo-facio-skeletal syndrome
Ceroid lipofuscinosis neuronal 1
Ceroid lipofuscinosis neuronal 2
Ceroid lipofuscinosis neuronal 5
Ceroid lipofuscinosis neuronal 6
Ceroid lipofuscinosis neuronal 7
Ceroid lipofuscinosis neuronal 8
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
Charcot-Marie-Tooth disease, type 4D
Chilblain lupus 2
Childhood hypophosphatasia
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Cholestanol storage disease
Cholesterol monooxygenase (side-chain cleaving) deficiency
Chondrodysplasia punctata 1, X-linked recessive
Chondroectodermal dysplasia
Choreoacanthocytosis
Chronic bronchitis
Chédiak-Higashi syndrome
Ciliary dyskinesia
Ciliary dyskinesia, primary, 14
Ciliary dyskinesia, primary, 16
Ciliary dyskinesia, primary, 17
Ciliary dyskinesia, primary, 3
Ciliary dyskinesia, primary, 9
Citrullinemia type I
Citrullinemia type II
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Cleft eyelid
Cleft palate
Cleft upper lip
Cleft uvula
Clinodactyly
Clinodactyly of the 5th finger
Cockayne syndrome B
Cockayne syndrome type A
Cognitive impairment
Cohen syndrome
Colitis
Combined cellular and humoral immune defects with granulomas
Combined malonic and methylmalonic aciduria
Combined oxidative phosphorylation deficiency 1
Combined oxidative phosphorylation deficiency 3
Combined saposin deficiency
Congenital amegakaryocytic thrombocytopenia
Congenital bilateral absence of the vas deferens
Congenital cerebellar hypoplasia
Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1C
Congenital hyperammonemia, type I
Congenital ichthyosis of skin
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4
Congenital myasthenic syndrome 1B, fast-channel
Congenital secretory diarrhea, chloride type
Corneal dystrophy and perceptive deafness
Corneal dystrophy, Fuchs endothelial, 4
Corneal endothelial dystrophy type 2
Corticosterone methyloxidase type 1 deficiency
Corticosterone methyloxidase type 2 deficiency
Cough
Cranial nerve paralysis
Craniosynostosis 1
Crigler-Najjar syndrome
Crigler-Najjar syndrome, type II
Cryptorchidism
Curry-Hall syndrome
Cystic fibrosis
Cystic hygroma
Cystinosis, ocular nonnephropathic
DE SANCTIS-CACCHIONE SYNDROME
Deafness, X-linked 2
Deafness, autosomal dominant 11
Deafness, autosomal dominant 3a
Deafness, autosomal dominant 3b
Deafness, autosomal recessive 12
Deafness, autosomal recessive 18
Deafness, autosomal recessive 1A
Deafness, autosomal recessive 1b
Deafness, autosomal recessive 2
Deafness, autosomal recessive 23
Deafness, autosomal recessive 77
Decreased antibody level in blood
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Deficiency of acetyl-CoA acetyltransferase
Deficiency of alpha-mannosidase
Deficiency of butyryl-CoA dehydrogenase
Deficiency of galactokinase
Deficiency of guanidinoacetate methyltransferase
Deficiency of hydroxymethylglutaryl-CoA lyase
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 17-alpha-monooxygenase
Dental crowding
Depressed nasal bridge
Diabetes mellitus
Diabetes mellitus type 2
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy 1L
Dilated cardiomyopathy 1X
Dislocated radial head
Displacement of the external urethral meatus
Dominant dystrophic epidermolysis bullosa with absence of skin
Downslanted palpebral fissures
Dysarthria
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita autosomal recessive 1
Dysmetria
Dysostosis multiplex
Ehlers-Danlos syndrome, type vii, autosomal recessive
Elbow flexion contracture
Encephalopathy, acute, infection-induced, 4, susceptibility to
Enhanced s-cone syndrome
Enlarged labia minora
Enlarged vestibular aqueduct
Epidermolysis bullosa pruriginosa
Esophageal stenosis
Ethylmalonic encephalopathy
Extramedullary hematopoiesis
Failure to thrive
Fair hair
Familial Mediterranean fever
Familial cancer of breast
Familial gynecomastia, due to increased aromatase activity
Familial hypokalemia-hypomagnesemia
Familial mediterranean fever, autosomal dominant
Familial medullary thyroid carcinoma
Fanconi anemia, complementation group A
Fanconi anemia, complementation group C
Fanconi anemia, complementation group G
Fetal hemoglobin quantitative trait locus 1
Finger syndactyly
Finnish congenital nephrotic syndrome
Frontal encephalocele
Fukuyama congenital muscular dystrophy
Fumarase deficiency
GM1 gangliosidosis type 2
GRACILE syndrome
Gait ataxia
Galactosylceramide beta-galactosidase deficiency
Gangliosidosis GM1 type 3
Gastroesophageal reflux
Gaucher disease type 3C
Gaucher disease, atypical, due to saposin C deficiency
Gaucher disease, perinatal lethal
Gaucher's disease, type 1
Generalized dominant dystrophic epidermolysis bullosa
Generalized hyperpigmentation
Gilbert's syndrome
Glaucoma
Glaucoma 3, primary congenital, A
Glaucoma 3, primary infantile, b
Global developmental delay
Glucose-6-phosphate transport defect
Glutaric aciduria, type 1
Glutaric aciduria, type 2
Glycogen storage disease type 1A
Glycogen storage disease type III
Glycogen storage disease, type II
Glycogen storage disease, type IV
Glycogen storage disease, type V
Glycogen storage disease, type VII
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Hand oligodactyly
Hb SS disease
Hearing impairment
Heinz body anemia
Hemochromatosis type 3
Hemoglobin H
Heparan sulfate excretion in urine
Hepatic failure
Hepatomegaly
Hereditary acrodermatitis enteropathica
Hereditary disease
Hereditary factor XI deficiency disease
Hereditary fructosuria
Hereditary insensitivity to pain with anhidrosis
Hereditary pancreatitis
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 3
Hidrotic ectodermal dysplasia syndrome
High palate
Hip contracture
Histiocytic medullary reticulosis
Holocarboxylase synthetase deficiency
Homocystinuria due to CBS deficiency
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
Horseshoe kidney
Hydrocephalus
Hydrolethalus syndrome 1
Hyperaldosteronism, familial, type I
Hyperammonemia, type III
Hyperhidrosis
Hypermelanotic macule
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hypertelorism
Hypertonia
Hypopigmentation of hair
Hypopigmented skin patches
Hypoplasia of the corpus callosum
Hypoplasia of the zygomatic bone
Hypospadias
Hystrix-like ichthyosis with deafness
I cell disease
Idiopathic fibrosing alveolitis, chronic form
Inclusion body myopathy 2
Incoordination
Increased antibody level in blood
Infantile GM1 gangliosidosis
Infantile hypophosphatasia
Infantile neuroaxonal dystrophy
Inflammatory abnormality of the eye
Intellectual disability
Intrauterine growth restriction
Irido-corneo-trabecular dysgenesis
Islet cell hyperplasia
Isovaleryl-CoA dehydrogenase deficiency
Jarcho-Levin syndrome
Joubert syndrome
Joubert syndrome 2
Joubert syndrome 4
Joubert syndrome 5
Joubert syndrome 7
Junctional epidermolysis bullosa gravis of Herlitz
Juvenile nephropathic cystinosis
Juvenile neuronal ceroid lipofuscinosis
Kartagener syndrome
Keratan sulfate excretion in urine
Keratitis-ichthyosis-deafness syndrome, autosomal dominant
Keratoderma palmoplantar deafness
Knee flexion contracture
Knuckle pads, deafness AND leukonychia syndrome
Krabbe disease atypical due to Saposin A deficiency
Laryngoonychocutaneous syndrome
Leber congenital amaurosis 10
Leber congenital amaurosis 13
Leber congenital amaurosis 2
Leber congenital amaurosis 5
Leber congenital amaurosis 8
Leigh syndrome
Leigh syndrome, French Canadian type
Lethal arthrogryposis with anterior horn cell disease
Lethal congenital contracture syndrome 1
Lethal multiple pterygium syndrome
Leucine-induced hypoglycemia
Leukoencephalopathy with vanishing white matter
Leukopenia
Lewy body dementia
Limb-girdle muscular dystrophy, type 2A
Limb-girdle muscular dystrophy, type 2B
Limb-girdle muscular dystrophy, type 2D
Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2F
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Liver cirrhosis
Liver failure acute infantile
Long penis
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Low anterior hairline
Low-set ears
Lucey-Driscoll syndrome
Lung cancer
Lymphoma
Lysinuric protein intolerance
Lysosomal acid lipase deficiency
Malabsorption
Malar flattening
Malformation of the heart and great vessels
Maple syrup urine disease
Maple syrup urine disease, type 3
Meckel syndrome type 1
Meckel syndrome type 2
Meckel syndrome type 4
Meckel syndrome type 5
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Megalencephalic leukoencephalopathy with subcortical cysts 1
Merosin deficient congenital muscular dystrophy
Metabolic syndrome X
Metachromatic leukodystrophy
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria cblD
Methylmalonic aciduria cblA type
Methylmalonic aciduria cblB type
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, postnatal progressive, with seizures and brain atrophy
Micrognathia
Microphthalmia
Microphthalmia, isolated 2
Microphthalmia, isolated, with coloboma 3
Midface capillary hemangioma
Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Mitochondrial DNA depletion syndrome 4B, MNGIE type
Mitochondrial complex I deficiency
Mitochondrial complex III deficiency
Mitochondrial trifunctional protein deficiency
Miyoshi muscular dystrophy 1
Mucolipidosis III Gamma
Mucolipidosis type IV
Mucopolysaccharidosis
Mucopolysaccharidosis type VI
Mucopolysaccharidosis type VII
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-D
Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-B
Multicystic kidney dysplasia
Multiple epiphyseal dysplasia 4
Multiple pterygium syndrome Escobar type
Multiple sulfatase deficiency
Muscle eye brain disease
Muscular hypotonia
Mutilating keratoderma
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, slow-channel congenital
Myelofibrosis
Myopathy, distal, with anterior tibial onset
Myopathy, lactic acidosis, and sideroblastic anemia 1
Nail disorder, nonsyndromic congenital, 8
Nail dystrophy
Narrow naris
Nasal polyposis
Navajo neurohepatopathy
Nemaline myopathy 2
Neonatal intrahepatic cholestasis caused by citrin deficiency
Neoplasm
Neoplasm of the pancreas
Nephrogenic diabetes insipidus, autosomal
Nephronophthisis 1
Nephropathic cystinosis
Nephrotic syndrome, idiopathic, steroid-resistant
Neu-Laxova syndrome
Neural tube defects, folate-sensitive
Neurodegeneration with brain iron accumulation 2b
Neutropenia
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Non-ketotic hyperglycinemia
Nonaka myopathy
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
Nonsyndromic microcephaly
Nystagmus
Odontoonychodermal dysplasia
Opacification of the corneal stroma
Optic atrophy and cataract, autosomal dominant
Oral cleft
Ornithine aminotransferase deficiency
Osteopetrosis autosomal recessive 1
Palmoplantar keratoderma
Parkinson disease
Parkinson disease 14
Patellar aplasia
Patent ductus arteriosus 1
Pena-Shokeir syndrome type I
Pendred syndrome
Permanent neonatal diabetes mellitus
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 3A
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 4a (zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 5a (zellweger)
Peroxisome biogenesis disorder 6A
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 9B
Perrault syndrome
Persistent hyperinsulinemic hypoglycemia of infancy
Phenylketonuria
Phocomelia
Phosphate transport defect
Phosphoglycerate dehydrogenase deficiency
Phytanic acid storage disease
Pigmented paravenous chorioretinal atrophy
Pili torti-deafness syndrome
Pituitary hormone deficiency, combined 2
Pituitary hormone deficiency, combined 3
Polycystic kidney dysplasia
Polyglandular autoimmune syndrome, type 1
Polyglucosan body disease, adult
Polyhydramnios
Polymicrogyria, bilateral frontoparietal
Polymicrogyria, bilateral perisylvian, autosomal recessive
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2D
Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia, type 1b
Posteriorly rotated ears
Premature birth
Premature graying of hair
Premature separation of centromeric heterochromatin
Pretibial epidermolysis bullosa
Primary hyperoxaluria, type I
Primary hyperoxaluria, type II
Primary hyperoxaluria, type III
Progressive sclerosing poliodystrophy
Prominent forehead
Propionyl-CoA carboxylase deficiency
Proptosis
Pseudo von Willebrand disease
Pseudo-Hurler polydystrophy
Pseudoneonatal adrenoleukodystrophy
Pulmonary hypertension, neonatal, susceptibility to
Pyknodysostosis
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E1-beta deficiency
Radial deviation of finger
Radioulnar synostosis
Recessive dystrophic epidermolysis bullosa
Recurrent fractures
Recurrent otitis media
Recurrent respiratory infections
Reduced bone mineral density
Reduced tendon reflexes
Renal carnitine transport defect
Renal tubular acidosis with progressive nerve deafness
Respiratory insufficiency due to defective ciliary clearance
Retinitis pigmentosa
Retinitis pigmentosa 12
Retinitis pigmentosa 20
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 28
Retinitis pigmentosa 37
Retinitis pigmentosa 39
Retinitis pigmentosa 59
Retinitis pigmentosa 61
Rheumatoid arthritis
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 3
Roberts-SC phocomelia syndrome
Rough bone trabeculation
Round face
Salla disease
Sandal gap
Sandhoff disease
Sarcotubular myopathy
Schimke immunoosseous dysplasia
Schopf-Schulz-Passarge syndrome
Scoliosis
Segawa syndrome, autosomal recessive
Seizures
Senior-Loken syndrome 1
Senior-Loken syndrome 6
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe autosomal recessive muscular dystrophy of childhood - North African type
Severe combined immunodeficiency due to ADA deficiency
Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe congenital neutropenia
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
Shallow orbits
Short neck
Short thumb
Sialic acid storage disease, severe infantile type
Sialuria
Single transverse palmar crease
Situs inversus totalis
Sjögren-Larsson syndrome
Skin ulcer
Smith-Lemli-Opitz syndrome
Sparse hair
Spastic ataxia Charlevoix-Saguenay type
Spastic gait
Spastic paraplegia
Spastic paraplegia 15
Sphingolipid activator protein 1 deficiency
Splenomegaly
Spondylocostal dysostosis 2
Spongy degeneration of central nervous system
Stargardt disease 1
Steel syndrome
Stillbirth
Stuve-Wiedemann syndrome
Subacute neuronopathic Gaucher's disease
Subcutaneous hemorrhage
Submucous cleft hard palate
Susceptibility to malaria
Syndactyly
Synostosis of carpal bones
Talipes equinovalgus
Tay-Sachs disease
Telangiectasia of the skin
Thrombocytopenia
Thrombocytosis, benign familial microcytic
Tooth agenesis, selective, 4
Tracheoesophageal fistula
Transient bullous dermolysis of the newborn
Transient neonatal diabetes mellitus 2
Transient neonatal diabetes mellitus 3
Trichohepatoenteric syndrome 1
Tyrosinemia type 2
Tyrosinemia type I
UV-sensitive syndrome
UV-sensitive syndrome 2
Underdeveloped nasal alae
Underdeveloped supraorbital ridges
Upper limb phocomelia
Usher syndrome, type 1
Usher syndrome, type 1C
Usher syndrome, type 1D
Usher syndrome, type 1F
Usher syndrome, type 2A
Usher syndrome, type 3A
Ventricular septal defect
Very long chain acyl-CoA dehydrogenase deficiency
Walker-Warburg congenital muscular dystrophy
Wide nasal bridge
Wilson disease
Wolcott-Rallison dysplasia
Wormian bones
Wrist flexion contracture
Xeroderma pigmentosum, group C
Xeroderma pigmentosum, type 1
Zellweger syndrome
alpha Thalassemia
beta Thalassemia
ABCB11 (2q31.1);
ABCC8 (11p15.1);
ACAD9 (3q21.3);
ACADM (1p31.1);
ACADS (12q24.31)
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Conditions
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Total conditions: 639
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Total methods: 0
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