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Metadata
ID DOID:0070131
Name 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.
https://www.ncbi.nlm.nih.gov/pubmed/26320891
Xrefs

ICD10CM:Q82.8

OMIM:616603

Synonyms

ADCL3 [EXACT]

Parent Relationships

is_a autosomal dominant cutis laxa

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