Menke-hennekam syndrome 2

Preferred Label : Menke-hennekam syndrome 2;

Symbol : MKHK2;

CISMeF acronym : MKHK2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the E1A-binding protein, 300kD gene (EP300, 602700.0012);

Prefixed ID : #618333;

Details

Origin ID

618333;

UMLS CUI

C5193035;

Genes related to phenotype
- E1a-binding protein, 300-kd [OMIM gene]
HPO term(s)
- Absent earlobe [HPO term]
- Agenesis of permanent teeth [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Chronic constipation [HPO term]
- Cutaneous syndactyly of toes [HPO term]
- Deep philtrum [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Duodenal ulcer [HPO term]
- Epicanthus [HPO term]
- Flat face [HPO term]
- Full cheeks [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Micrognathia [HPO term]
- Narrow nasal bridge [HPO term]
- Overlapping toe [HPO term]
- Prominent forehead [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Sandal gap [HPO term]
- Short palpebral fissure [HPO term]
- Square face [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Menke-Hennekam syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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