Intellectual developmental disorder, autosomal recessive 60

Preferred Label : Intellectual developmental disorder, autosomal recessive 60;

Symbol : MRT60;

CISMeF acronym : MRT60;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 60;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TAF13 RNA polymerase II, TATA box-binding protein-associated factor gene (TAF13, 600774.0001);

Prefixed ID : #617432;

Details

Origin ID

617432;

UMLS CUI

C4479476;

Genes related to phenotype
- Taf13 rna polymerase II, tata box-binding protein-associated factor, 18-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed myelination [HPO term]
- Delayed puberty [HPO term]
- Delayed skeletal maturation [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability, mild [HPO term]
- Microcephaly [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Variable expressivity [HPO term]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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