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oculocerebrofacial syndrome, Kaufman type

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present.
Mondo Term and Equivalent IDs
MONDO:0009485:  oculocerebrofacial syndrome, Kaufman type
DOID:0111456: 
GARD:0003084: 
MESH:C537013: 
Orphanet:2707: 
SCTID:722056009: 
UMLS:C1855663: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)