Version: 8.0.0
Date: Tue Jan 28 2025
autosomal recessive cutis laxa type IID
DOID:0070129
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

autosomal recessive cutis laxa type IID

Definition
An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
Synonyms
  • ARCL2D
Cross References
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Sources of Associations

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