Hennekam lymphangiectasia-lymphedema syndrome 2

Preferred Label : Hennekam lymphangiectasia-lymphedema syndrome 2;

Symbol : HKLLS2;

CISMeF acronym : HKLLS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FAT atypical cadherin 4 gene (FAT4, 612411.0003);

Prefixed ID : #616006;

Details

Origin ID

616006;

UMLS CUI

C4014939;

Automatic exact mappings (from CISMeF team)
- FAT4 wt Allele [NCIt concept]
DO Cross reference
- Hennekam syndrome [DO Concept]
Genes related to phenotype
- Fat atypical cadherin 4 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Camptodactyly [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Flat face [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, mild [HPO term]
- Intestinal lymphangiectasia [HPO term]
- Irregular dentition [HPO term]
- Lymphedema [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Osteoporosis [HPO term]
- Pericardial lymphangiectasia [HPO term]
- Pulmonary lymphangiectasia [HPO term]
- Syndactyly [HPO term]
Not associated HPO term(s)
- Abnormal tracheal morphology [HPO term]
ORDO concept(s)
- Hennekam syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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