Conditions / Skin
autosomal recessive cutis laxa type IID
info · Skin · ICD-10: Q82.8
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 chromosom
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.
Signs and symptoms
- Hypsarrhythmia
- Hypotonia
- Motor delay
- Failure to thrive
- Bulbous nose
- Ventriculomegaly
- Cutis laxa
- Delayed speech and language development
- Redundant skin
- Gliosis
Also known as: ARCL2D