Oliver-McFarlane syndrome

info · Syndrome

A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.

Signs and symptoms

Anterior pituitary hypoplasia
Short stature
Gait ataxia
Pigmentary retinopathy
Intention tremor
Sparse hair
Nystagmus
Unsteady gait
Hypogonadism
Cerebellar vermis atrophy

Also known as: OMCS; eyelashes long mental retardation; long eyelashes-intellectual disability syndrome; trichomegaly-retina pigmentary degeneration-dwarfism syndrome