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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111456
GARD:0003084
MESH:C537013
OMIM:244450
Orphanet:2707
SCTID:722056009
UMLS:C1855663
MONDO:0009485
High level summary of knowledge for a disease, including descriptions and datasource references.