Usmani-riazuddin syndrome, autosomal dominant

Preferred Label : Usmani-riazuddin syndrome, autosomal dominant;

Symbol : USRISD;

Type : Phenotype, molecular basis known;

Prefixed ID : #619467;

Details

Origin ID

619467;

UMLS CUI

C5561952;

Genes related to phenotype
- Adaptor-related protein complex 1, gamma-1 subunit [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Aggressive behavior [HPO term]
- Amblyopia [HPO term]
- Anisometropia [HPO term]
- Anxiety [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Delayed speech and language development [HPO term]
- Depression [HPO term]
- Esotropia [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hooded eyelid [HPO term]
- Hyperactivity [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Lumbar hyperlordosis [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Short finger [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Thoracic kyphosis [HPO term]
- Turricephaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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