Cornelia de lange syndrome 4 with or without midline brain defects

Preferred Label : Cornelia de lange syndrome 4 with or without midline brain defects;

Symbol : CDLS4;

CISMeF acronym : CDLS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the S. Pombe RAD21 gene (RAD21, 606462.0001);

Prefixed ID : #614701;

Details

Origin ID

614701;

UMLS CUI

C3553517;

Currated CISMeF NLP mapping
- Cornelia de Lange syndrome 4 [DO Concept]
DO Cross reference
- Cornelia de Lange syndrome 4 [DO Concept]
Genes related to phenotype
- Rad21 cohesin complex component [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coxa vara [HPO term]
- Cutis marmorata [HPO term]
- Enamel agenesis [HPO term]
- Exostoses [HPO term]
- Fetal onset [HPO term]
- Flat face [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hemivertebrae [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Hypotelorism [HPO term]
- Intestinal malrotation [HPO term]
- Lobar holoprosencephaly [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Pectus carinatum [HPO term]
- Radioulnar synostosis [HPO term]
- Seizure [HPO term]
- Short femoral neck [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Skull asymmetry [HPO term]
- Smooth philtrum [HPO term]
- Stapes ankylosis [HPO term]
- Submucous cleft hard palate [HPO term]
- Syndactyly [HPO term]
- Synophrys [HPO term]
- Tetralogy of Fallot [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Thin vermilion border [HPO term]
- Upslanted palpebral fissure [HPO term]
- Velopharyngeal insufficiency [HPO term]
- Ventriculomegaly [HPO term]
- Vertebral clefting [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Cornelia de Lange syndrome [ORDO Disease]
See also inter- (CISMeF)
- RAD21 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Cornelia de Lange syndrome [DO Concept]

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