Intellectual developmental disorder with speech delay and dysmorphic facies

Preferred Label : Intellectual developmental disorder with speech delay and dysmorphic facies;

Symbol : IDDSDF;

CISMeF acronym : CSS10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CSS10; Coffin-siris syndrome 10;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SRY-box-4 gene (SOX4, 184430.0001);

Prefixed ID : #618506;

Details

Origin ID

618506;

UMLS CUI

C4760583;

False automatic mappings
- Columbia-Suicide Severity Rating Scale Pediatric/Cognitively Impaired Lifetime/Recent Questionnaire [NCIt concept]
Genes related to phenotype
- Sry-box 4 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Intellectual disability [HPO term]
- Laryngomalacia [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Persistence of primary teeth [HPO term]
- Posteriorly rotated ears [HPO term]
- Spastic tetraparesis [HPO term]
- Ventricular septal defect [HPO term]
- Wide mouth [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