Intellectual developmental disorder with severe speech and ambulation defects

Preferred Label : Intellectual developmental disorder with severe speech and ambulation defects;

Symbol : IDDSSAD;

CISMeF acronym : IDDSSAD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the actin-like 6B gene (ACTL6B, 612458.0009);

Prefixed ID : #618470;

Details

Origin ID

618470;

UMLS CUI

C5193115;

Genes related to phenotype
- Actin-like 6b [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Broad-based gait [HPO term]
- Bulbous nose [HPO term]
- Diastema [HPO term]
- Generalized hypotonia [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Infantile spasms [HPO term]
- Microcephaly [HPO term]
- Prominent forehead [HPO term]
- Short distal phalanx of finger [HPO term]
- Small nail [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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