autosomal dominant cutis laxa 3

Term ID

DOID:0070131

Synonyms

• ADCL3

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

References

• ICD10CM:Q82.8
• OMIM:616603

Ontology

Human Disease   ( DOID:0070131 )