WormBase Tree Display for DO_term: DOID:0111456
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| DOID:0111456 | Name | Kaufman oculocerebrofacial syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | KOS | |||
| blepharophimosis ptosis intellectual disability syndrome | |||||
| oculocerebrofacial syndrome, Kaufman type | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0050888 | |||||
| DB_info | Database | OMIM | disease | 244450 | |
| Attribute_of | Gene_by_orthology | WBGene00003898 |
