At a Glance
Deficiency of butyryl-CoA dehydrogenase;
Abetalipoproteinaemia;
Abnormal facial shape
more...
⨉
Deficiency of butyryl-CoA dehydrogenase
Abetalipoproteinaemia
Abnormal facial shape
Abnormality of dental enamel
Abnormality of female internal genitalia
Abnormality of retinal pigmentation
Abnormality of the cardiac septa
Abnormality of the gastrointestinal tract
Abnormality of the mitral valve
Abnormality of the nail
Abnormality of the nose
Abnormality of the testis
Abnormality of the tricuspid valve
Abnormality of the vitreous humor
Adenylosuccinate lyase deficiency
Age-related macular degeneration 5
Age-related macular degeneration 7
Aggressive behavior
Allan-Herndon-Dudley syndrome
Ambiguous genitalia
Anterior creases of earlobe
Aplasia cutis congenita
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the skin
Areflexia
Ataxia
Ataxia, spastic, 3, autosomal recessive
Atrial septal defect
Autosomal dominant inheritance
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Bannayan-Riley-Ruvalcaba syndrome
CNS hypomyelination
Cardiac arrhythmia
Cardiomyopathy
Cerebellar ataxia infantile with progressive external ophthalmoplegia
Cerebellar atrophy
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral cortical atrophy
Cerebral folate deficiency
Cerebral hypomyelination
Cerebro-oculo-facio-skeletal syndrome
Cholestanol storage disease
Choreoathetosis
Chorioretinal abnormality
Clonus
Cockayne syndrome B
Cognitive impairment
Combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency 1
Congenital cataracts, hearing loss, and neurodegeneration
Congenital diaphragmatic hernia
Congenital disorder of glycosylation type Ir
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 brain and eye anomalies, type A2
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4
Cowden syndrome
Cutaneous malignant melanoma 1
DE SANCTIS-CACCHIONE SYNDROME
Death in infancy
Decreased liver function
Deficiency of malonyl-CoA decarboxylase
Delayed myelination
Delayed speech and language development
Developmental regression
Dilated cardiomyopathy 1X
Displacement of the external urethral meatus
Dysarthria
Dysostosis multiplex
Dysphagia
Dysphonia
Dystonia
Early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy 4
Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Endometrial carcinoma
Epileptic encephalopathy
Erythrokeratodermia with ataxia
Feeding difficulties
Female pseudohermaphroditism
Focal seizures
Follicular thyroid carcinoma
Fukuyama congenital muscular dystrophy
Gait ataxia
Generalized dystonia
Glaucoma
Glioma susceptibility 2
Gliosis
Global developmental delay
Glutamine deficiency, congenital
Hearing impairment
Hepatomegaly
Hereditary disease
High forehead
Highly arched eyebrow
Hydrocephalus
Hypertelorism
Hypertrophic cardiomyopathy
Hypomyelinating leukodystrophy 7
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Hypomyelination, global cerebral
Hypopigmented skin patches
Hypoplasia of the corpus callosum
Hyporeflexia
Ichthyosis, spastic quadriplegia, and mental retardation
Increased CSF lactate
Increased serum lactate
Infantile cerebellar-retinal degeneration
Infantile myofibromatosis 2
Intellectual disability
Irregular hyperpigmentation
Lactic acidosis
Lethargy
Leukodystrophy
Leukodystrophy, hypomyelinating, 2
Leukodystrophy, hypomyelinating, 4
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with vanishing white matter
Limb dystonia
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Long philtrum
Lung cancer
Lymphedema, hereditary, IC
Macrocephaly/autism syndrome
Malar flattening
Male pseudohermaphroditism
Malignant tumor of prostate
Megaloblastic anemia due to dihydrofolate reductase deficiency
Meningioma, familial
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Merosin deficient congenital muscular dystrophy
Metabolic syndrome X
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Micrognathia
Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Mitochondrial DNA depletion syndrome 4B, MNGIE type
Motor delay
Mucolipidosis type IV
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Muscle eye brain disease
Muscular Diseases
Muscular hypotonia
Muscular hypotonia of the trunk
Myoclonus
Myopia
Narrow face
Neu-Laxova syndrome
Neurological speech impairment
Neuronal loss in central nervous system
Nonsyndromic microcephaly
Nystagmus
Opacification of the corneal stroma
Optic atrophy
Optic disc pallor
Pachygyria
Pelizaeus-Merzbacher disease
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Peripheral neuropathy
Peroxisome biogenesis disorder 9B
Personality disorder
Phenylketonuria
Phosphoglycerate dehydrogenase deficiency
Phytanic acid storage disease
Polymicrogyria, bilateral frontoparietal
Polymicrogyria, bilateral perisylvian, autosomal recessive
Poor eye contact
Poor speech
Posterior embryotoxon
Posteriorly rotated ears
Primary pulmonary hypertension
Progressive sclerosing poliodystrophy
Psychosis
Renal dysplasia
Renal tubular acidosis
Respiratory insufficiency
Rett syndrome, congenital variant
Rhizomelic chondrodysplasia punctata type 1
Rigidity
Sacral dimple
Sandal gap
Sclerocornea
Seizures
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe muscular hypotonia
Short chin
Short nose
Spastic paraplegia 13
Spastic paraplegia 2
Spastic paraplegia 35
Spastic paraplegia 42, autosomal dominant
Spastic paraplegia 44, autosomal recessive
Spastic paraplegia 47, autosomal recessive
Spasticity
Specific learning disability
Squamous cell carcinoma of the head and neck
Stargardt Disease 3
Status epilepticus
Sunken cheeks
Syndromic mental retardation, Nascimento type, X-linked
Tetralogy of Fallot
Tetraplegia
Tongue fasciculations
Torsion dystonia
Torticollis
Tremor
UV-sensitive syndrome
VACTERL association with hydrocephalus
Ventricular hypertrophy
Visual impairment
Waardenburg syndrome type 2E
Waardenburg syndrome type 4C
Walker-Warburg congenital muscular dystrophy
Wide intermamillary distance
X-linked hereditary motor and sensory neuropathy
progressive
ACADS (12q24.31);
ACO2 (22q13.2);
ADGRG1 (16q21);
ADSL (22q13.1);
AP4B1 (1p13.2)
more...
⨉
ACADS (12q24.31)
ACO2 (22q13.2)
ADGRG1 (16q21)
ADSL (22q13.1)
AP4B1 (1p13.2)
B3GALNT2 (1q42.3)
COX7B (Xq21.1)
CYP27A1 (2q35)
DARS (2q21.3)
DARS2 (1q25.1)
DDOST (1p36.12)
DHFR (5q14.1)
DNM1L (12p11.21)
EIF2B1 (12q24.31)
EIF2B2 (14q24.3)
EIF2B3 (1p34.1)
EIF2B4 (2p23.3)
EIF2B5 (3q27.1)
ELOVL4 (6q14.1)
ERCC6 (10q11.23)
FA2H (16q23.1)
FKRP (19q13.32)
FKTN (9q31.2)
FOLR1 (11q13.4)
FOXG1 (14q12)
GFM1 (3q25.32)
GJB1 (Xq13.1)
GJC2 (1q42.13)
GLUL (1q25.3)
HSPD1 (2q33.1)
HTRA1 (10q26.13)
IDUA (4p16.3)
KCNT1 (9q34.3)
LAMA2 (6q22.33)
LARGE1 (22q12.3)
MARS2 (2q33.1)
MCOLN1 (19p13.2)
MEF2C (5q14.3)
MLYCD (16q23.3)
MMUT (6p12.3)
MT-TP ()
NOTCH3 (19p13.12)
PAH (12q23.2)
PEX7 (6q23.3)
PHGDH (1p12)
PLP1 (Xq22.2)
POLG (15q26.1)
POLR3A (10q22.3)
POLR3B (12q23.3)
POMGNT1 (1p34.1)
POMT1 (9q34.13)
POMT2 (14q24.3)
PTEN (10q23.31)
RMND1 (6q25.1)
SLC16A2 (Xq13.2)
SLC25A12 (2q31.1)
SLC33A1 (3q25.31)
SOX10 (22q13.1)
STXBP1 (9q34.11)
TUBB4A (19p13.3)
TYMP (22q13.33)
UBE2A (Xq24)
Conditions
Help
Total conditions: 225
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
Help
Test method
Help
Instrument *
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
