Coffin-siris syndrome 11

Preferred Label : Coffin-siris syndrome 11;

Symbol : CSS11;

CISMeF acronym : CSS11;

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 D, member 1 (SMARCD1, 601735.0001);

Prefixed ID : #618779;

Details

Origin ID

618779;

UMLS CUI

C5241442;

False automatic mappings
- Columbia-Suicide Severity Rating Scale Lifetime/Recent Version Questionnaire [NCIt concept]
Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 1 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Bulbous nose [HPO term]
- Cleft soft palate [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Esophageal atresia [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Low posterior hairline [HPO term]
- Narrow forehead [HPO term]
- Prominent metopic ridge [HPO term]
- Small hand [HPO term]
- Uplifted earlobe [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Coffin-Siris syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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