Version: 8.0.0
Date: Tue Jan 28 2025
autosomal dominant cutis laxa 3
DOID:0070131
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

autosomal dominant cutis laxa 3

Definition
An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Synonyms
  • ADCL3
Cross References
Parent Terms
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None
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