Kaufman oculocerebrofacial syndrome
. An autosomal recessive mode of inheritance seems most likely.
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Summary
Kaufman oculocerebrofacial syndrome is a developmental defect during embryogenesis[1]. It draws 43 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #133 of 308).[2]
Key Facts
- Kaufman oculocerebrofacial syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Kaufman oculocerebrofacial syndrome's instance of is recorded as rare disease[4].
- Kaufman oculocerebrofacial syndrome's instance of is recorded as class of disease[5].
- Kaufman oculocerebrofacial syndrome is a type of syndromic intellectual disability[6].
- Kaufman oculocerebrofacial syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[7].
- Kaufman oculocerebrofacial syndrome is a type of syndromic developmental defect of the eye[8].
- Kaufman oculocerebrofacial syndrome is a type of genetic syndromic intellectual disability[9].
- Kaufman oculocerebrofacial syndrome is a type of autosomal recessive disease[10].
- Kaufman oculocerebrofacial syndrome's genetic association is recorded as UBE3B[11].
- Kaufman oculocerebrofacial syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2707[12].
- Kaufman oculocerebrofacial syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111456[13].
- Kaufman oculocerebrofacial syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111456[14].
Why It Matters
Kaufman oculocerebrofacial syndrome draws 43 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #133 of 308).[2] It is known by 6 alternative names across languages and contexts.[15]