Coffin-siris syndrome 8

Preferred Label : Coffin-siris syndrome 8;

Symbol : CSS8;

CISMeF acronym : CSS8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SW1/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 gene (SMARCC2, 601734.0001);

Prefixed ID : #618362;

Details

Origin ID

618362;

UMLS CUI

C5193054;

Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily C, member 2 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Eczema [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Hyperactivity [HPO term]
- Long eyelashes [HPO term]
- Poor suck [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Sleep disturbance [HPO term]
- Sparse scalp hair [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- Coffin-Siris syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients