Conditions / Skin
autosomal recessive cutis laxa type IIIA
info · Skin · ICD-10: Q82.8
A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Signs and symptoms
- Moderate intellectual disability
- Short stature
- Hypotonia
- Absent speech
- Joint hypermobility
- Lower limb hyperreflexia
- Global developmental delay
- Prominent superficial blood vessels
- Distal amyotrophy
- Low plasma citrulline
Also known as: ARCL3A; De Barsy syndrome A