Conditions / Skin
autosomal recessive cutis laxa type IIA
info · Skin · ICD-10: Q82.8
An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
Signs and symptoms
- Wide anterior fontanel
- Excessive wrinkled skin
- Joint hypermobility
- Congenital hip dislocation
- Long philtrum
- Strabismus
- Anteverted nares
- Inguinal hernia
- Seizure
- Narrow mouth
Also known as: ARCL2A