Menke-hennekam syndrome 1

Preferred Label : Menke-hennekam syndrome 1;

Symbol : MKHK1;

CISMeF acronym : MKHK1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in creb-binding protein (CREBBP, 600140.0009);

Prefixed ID : #618332;

Details

Origin ID

618332;

UMLS CUI

C5193034;

Genes related to phenotype
- Creb-binding protein [OMIM gene]
HPO term(s)
- Absent earlobe [HPO term]
- Agenesis of permanent teeth [HPO term]
- Anteverted nares [HPO term]
- Autistic behavior [HPO term]
- Blepharophimosis [HPO term]
- Blindness [HPO term]
- Broad hallux [HPO term]
- Cataract [HPO term]
- Chronic constipation [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous syndactyly of toes [HPO term]
- Deep philtrum [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Depressed nasal bridge [HPO term]
- Depressed nasal ridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Everted upper lip vermilion [HPO term]
- Feeding difficulties [HPO term]
- Flat face [HPO term]
- Flexion contracture [HPO term]
- Full cheeks [HPO term]
- Gastroesophageal reflux [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hip dysplasia [HPO term]
- Hypermetropia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Narrow nasal bridge [HPO term]
- Overfolded helix [HPO term]
- Overlapping toe [HPO term]
- Prominent forehead [HPO term]
- Prominent inferior crus of antihelix [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short columella [HPO term]
- Short ear [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Sparse hair [HPO term]
- Square face [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Tethered cord [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Underdeveloped nasal alae [HPO term]
- Upslanted palpebral fissure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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