ZFIN Human Disease: Kaufman oculocerebrofacial syndrome

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 the UBE3B gene on chromosome 12q24.11. (2)
References:	GARD:3084 MESH:C537013 OMIM:244450 ORDO:2707 SNOMEDCT_US_2023_03_01:722056009 UMLS_CUI:C1855663
Ontology:	Human Disease ( DOID:0111456 )

Relationships

is a type of:	autosomal recessive disease syndromic intellectual disability autosomal recessive disease syndromic intellectual disability Show first 5 Terms

OTHER Kaufman oculocerebrofacial syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
UBE3B	ube3b	Kaufman oculocerebrofacial syndrome	244450

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None