Coffin-siris syndrome 7

Preferred Label : Coffin-siris syndrome 7;

Symbol : CSS7;

CISMeF acronym : CSS7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the D4, zinc, and double PHD fingers family, member 2 gene (DPF2, 601671.0001);

Prefixed ID : #618027;

Details

Origin ID

618027;

UMLS CUI

C4747954;

Automatic exact mappings (from CISMeF team)
- DPF2 wt Allele [NCIt concept]
Genes related to phenotype
- D4, zinc, and double phd fingers family, member 2 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormal heart morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad philtrum [HPO term]
- Clinodactyly [HPO term]
- Coarse facial features [HPO term]
- Constipation [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic fifth toenail [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microdontia [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Recurrent otitis media [HPO term]
- Sagittal craniosynostosis [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Sparse scalp hair [HPO term]
- Strabismus [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Trigonocephaly [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