OBO ID: DOID:0111456
Term Name: Kaufman oculocerebrofacial syndrome Search Ontology:
Synonyms:
  • blepharophimosis ptosis intellectual disability syndrome
  • KOS
  • oculocerebrofacial syndrome, Kaufman type
Definition: A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in UBE3B on chromosome 12q24.11. (2)
References:
Ontology: Human Disease   (DOID:0111456)
OTHER Kaufman oculocerebrofacial syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UBE3B Kaufman oculocerebrofacial syndrome 244450
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None