Intellectual developmental disorder with macrocephaly, seizures, and speech delay

Preferred Label : Intellectual developmental disorder with macrocephaly, seizures, and speech delay;

Symbol : IDDMSSD;

CISMeF acronym : IDDMSSD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the p21 protein-activated kinase 1 gene (PAK1, 602590.0001);

Prefixed ID : #618158;

Details

Origin ID

618158;

UMLS CUI

C4748428;

Genes related to phenotype
- P21 protein-activated kinase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed myelination [HPO term]
- Delayed speech and language development [HPO term]
- Esodeviation [HPO term]
- Frontal bossing [HPO term]
- Gait ataxia [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, severe [HPO term]
- Long face [HPO term]
- Microtia [HPO term]
- Motor delay [HPO term]
- Periventricular white matter hyperintensities [HPO term]
- Poor speech [HPO term]
- Postnatal macrocephaly [HPO term]
- Receptive language delay [HPO term]
- Recurrent hypoglycemia [HPO term]
- Seizure [HPO term]
- Unsteady gait [HPO term]
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