Usmani-riazuddin syndrome, autosomal recessive

Preferred Label : Usmani-riazuddin syndrome, autosomal recessive;

Symbol : USRISR;

Type : Phenotype, molecular basis known;

Prefixed ID : #619548;

Details

Origin ID

619548;

UMLS CUI

C5561994;

Genes related to phenotype
- Adaptor-related protein complex 1, gamma-1 subunit [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Conjunctival hyperemia [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Low-set ears [HPO term]
- Lumbar scoliosis [HPO term]
- Pectus excavatum [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent supraorbital ridges [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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