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lipodystrophy-intellectual disability-deafness syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
Mondo Term and Equivalent IDs
MONDO:0011976:  lipodystrophy-intellectual disability-deafness syndrome
MESH:C564283: 
Orphanet:50811: 
SCTID:721973006: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found