Coffin-siris syndrome 6

Preferred Label : Coffin-siris syndrome 6;

Symbol : CSS6;

CISMeF acronym : CSS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the AT-rich interaction domain-containing protein 2 gene (ARID2, 609539.0001);

Prefixed ID : #617808;

Details

Origin ID

617808;

UMLS CUI

C4540499;

Currated CISMeF NLP mapping
- Coffin-Siris syndrome 6 [DO Concept]
DO Cross reference
- Coffin-Siris syndrome 6 [DO Concept]
Genes related to phenotype
- At-rich interaction domain-containing protein 2 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Anxiety [HPO term]
- Arachnoid cyst [HPO term]
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad nasal tip [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Coarse facial features [HPO term]
- Conductive hearing impairment [HPO term]
- Constipation [HPO term]
- Deep philtrum [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Diaphragmatic eventration [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- High, narrow palate [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Large forehead [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Narrow palpebral fissure [HPO term]
- Neurodevelopmental delay [HPO term]
- Pectus excavatum [HPO term]
- Periventricular leukomalacia [HPO term]
- Plagiocephaly [HPO term]
- Retrognathia [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Tics [HPO term]
- Wormian bones [HPO term]
Not associated HPO term(s)
- Seizure [HPO term]
ORDO concept(s)
- Coffin-Siris syndrome [ORDO Disease]
See also inter- (CISMeF)
- ARID2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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