Deafness, cataract, impaired intellectual development, and polyneuropathy

Preferred Label : Deafness, cataract, impaired intellectual development, and polyneuropathy;

Symbol : DCIDP;

Type : Phenotype, molecular basis known;

Prefixed ID : #619354;

Details

Origin ID

619354;

UMLS CUI

C5543482;

Genes related to phenotype
- Proteasome 26s subunit, atpase, 3 [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Developmental cataract [HPO term]
- Hearing impairment [HPO term]
- Malar flattening [HPO term]
- Moderate global developmental delay [HPO term]
- Polyneuropathy [HPO term]
- Prominent supraorbital ridges [HPO term]
- Round ear [HPO term]
- Severe global developmental delay [HPO term]
- Short philtrum [HPO term]
- Strabismus [HPO term]
- Subcutaneous calcification [HPO term]
- Sunken cheeks [HPO term]
- Synophrys [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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