| Metadata | |
|---|---|
| ID | DOID:0111456 |
| Name | Kaufman oculocerebrofacial syndrome |
| 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 compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/23200864 |
| Xrefs |
SNOMEDCT_US_2023_03_01:722056009 |
| Subsets |
DO_rare_slim |
| Synonyms |
blepharophimosis ptosis intellectual disability syndrome [EXACT] oculocerebrofacial syndrome, Kaufman type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Neurodevelopmental delay has material basis in some autosomal recessive inheritance |