Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity

Preferred Label : Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity;

Symbol : NEDFCF;

CISMeF acronym : MRT40;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder, autosomal recessive 40; Mental retardation, autosomal recessive 40; MRT40;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TAF2 RAN polymerase II, TATA box-binding protein-associated factor, 150kD gene (TAF2, 604912.0001);

Prefixed ID : #615599;

Details

Origin ID

615599;

UMLS CUI

C3810080;

Automatic exact mappings (from CISMeF team)
- Microcephaly-thin corpus callosum-intellectual disability syndrome [ORDO Disease]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Taf2 rna polymerase II, tata box-binding protein-associated factor, 150-kd [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormal pyramidal sign [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bicuspid aortic valve [HPO term]
- Cerebral atrophy [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Secondary microcephaly [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Microcephaly-thin corpus callosum-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients