Hiatt-neu-cooper neurodevelopmental syndrome

Preferred Label : Hiatt-neu-cooper neurodevelopmental syndrome;

Symbol : HINCONS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619311;

Details

Origin ID

619311;

UMLS CUI

C5543338;

Genes related to phenotype
- Ras-like protooncogene a [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Exaggerated cupid's bow [HPO term]
- Global developmental delay [HPO term]
- Horizontal eyebrow [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Pointed chin [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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