autosomal recessive cutis laxa type IID

Term ID

DOID:0070129

Synonyms

• ARCL2D

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. https://www.ncbi.nlm.nih.gov/pubmed/28065471

References

• ICD10CM:Q82.8
• OMIM:617403

Ontology

Human Disease   ( DOID:0070129 )