Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies

Preferred Label : Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies;

Symbol : NEDBGF;

CISMeF acronym : MRT36;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRT36; Mental retardation, autosomal recessive 36;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tRNA-specific adenosine deaminase 3 gene (ADAT3, 615302.0001);

Laboratory abnormalities : Low IGF-1 (in 1 family);

Prefixed ID : #615286;

Détails

Origin ID

615286;

UMLS CUI

C4750838;

Automatic exact mappings (from CISMeF team)
- Intellectual disability-strabismus syndrome [ORDO Disease]
- Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies [NCIt concept]
Genes related to phenotype
- Adenosine deaminase, trna-specific, 3 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed myelination [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Esotropia [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- High forehead [HPO term]
- Hyperactivity [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Prominent forehead [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Intellectual disability-strabismus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability with strabismus syndrome (disorder) [SNOMED CT concept]
- Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies [NCIt concept]

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