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ZIRC
OBO ID: DOID:0060366
Term Name: Hennekam syndrome Search Ontology:
Synonyms:
  • Hennekam lymphangiectasia-lymphedema syndrome
  • lymphedem-lymphangiectasia-intellectual disability syndrome
Definition: A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. (5)
References:
Ontology: Human Disease   (DOID:0060366)
OTHER Hennekam syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCBE1 Hennekam lymphangiectasia-lymphedema syndrome 1 235510
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2 616006
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)