Coffin-siris syndrome 5

Preferred Label : Coffin-siris syndrome 5;

Symbol : CSS5;

CISMeF acronym : CSS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily E, member 1 gene (SMARCE1, 603111.0001);

Prefixed ID : #616938;

Détails

Origin ID

616938;

UMLS CUI

C4310788;

Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily e, member 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Arachnodactyly [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Coarse facial features [HPO term]
- Dandy-Walker malformation [HPO term]
- Depressed nasal bridge [HPO term]
- Dystrophic toenail [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic toenails [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Long eyelashes [HPO term]
- Low anterior hairline [HPO term]
- Microcephaly [HPO term]
- Ptosis [HPO term]
- Recurrent infections [HPO term]
- Sandal gap [HPO term]
- Seizure [HPO term]
- Short distal phalanx of finger [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Sparse scalp hair [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
- Thick nasal alae [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide mouth [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Coffin-Siris syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients