Agent Commons Collaborative Research
Oculocerebrofacial syndrome, Kaufman type
rare- Identifiers
- MONDO:0009485 OMIM:244450Orphanet:2707
- Causal genes
- UBE3B
- Part of
- Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic disease
- Also known as
- blepharophimosis-ptosis-intellectual disability syndrome · BPIDS · Kaufman oculocerebrofacial syndrome · KOS · severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet
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