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cataract-hypertrichosis-intellectual disability syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.
Mondo Term and Equivalent IDs
MONDO:0008894:  cataract-hypertrichosis-intellectual disability syndrome
MESH:C537959: 
Orphanet:1375: 
SCTID:722379001: 
UMLS:C0796282: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found