Conditions / Syndrome
Laurence-Moon syndrome
info · Syndrome · ICD-10: Q87.84
A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2.
Signs and symptoms
- Short stature
- Nystagmus
- Intellectual disability
- Ataxia
- Peripheral neuropathy
- Chorioretinal atrophy
- Abnormality of the hand
- Micropenis
- Small scrotum
- Pigmentary retinopathy
Also known as: LNMS