Intellectual developmental disorder, autosomal recessive 74

Preferred Label : Intellectual developmental disorder, autosomal recessive 74;

Symbol : MRT74;

CISMeF acronym : SOTOS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sotos syndrome 3; SOTOS3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the APC2 gene (APC2, 612034.0001);

Prefixed ID : #617169;

Details

Origin ID

617169;

UMLS CUI

C4310684;

Genes related to phenotype
- Apc2 regulator of wnt signaling pathway 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Childhood onset [HPO term]
- Delayed speech and language development [HPO term]
- Dolichocephaly [HPO term]
- EEG with polyspike wave complexes [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Narrow palate [HPO term]
- Poor speech [HPO term]
- Prominent nose [HPO term]
- Relative macrocephaly [HPO term]
- Seizure [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Sotos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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