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ALDH18A1-related de Barsy syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.
Uniprot Description A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.
Disease Ontology Description A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Mondo Term and Equivalent IDs
MONDO:0009053:  ALDH18A1-related de Barsy syndrome
Orphanet:35664: 
SCTID:59252009: