autosomal recessive cutis laxa type IIC

Term ID

DOID:0070140

Synonyms

Definition

An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. https://www.ncbi.nlm.nih.gov/pubmed/28065471

References

• ICD10CM:Q82.8
• OMIM:617402

Ontology

Human Disease   ( DOID:0070140 )