Neurodevelopmental disorder with absent language and variable seizures

Preferred Label : Neurodevelopmental disorder with absent language and variable seizures;

Symbol : NEDALVS;

CISMeF acronym : NEDALVS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ito-raymond syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the WAS protein family, member 1 gene (WASF1, 605035.0001);

Prefixed ID : #618707;

Details

Origin ID

618707;

UMLS CUI

C5231469;

Genes related to phenotype
- Wasp protein family, member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blue sclerae [HPO term]
- Broad-based gait [HPO term]
- Cafe-au-lait spot [HPO term]
- Chronic constipation [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Genu recurvatum [HPO term]
- Intellectual disability, severe [HPO term]
- Inverted nipples [HPO term]
- Joint hyperflexibility [HPO term]
- Midface retrusion [HPO term]
- Pes planus [HPO term]
- Proptosis [HPO term]
- Recurrent urinary tract infections [HPO term]
- Reduced visual acuity [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Short 3rd toe [HPO term]
- Short 4th toe [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
- Wide intermamillary distance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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