Term Name: Oliver-McFarlane syndrome
Synonyms: eyelashes long mental retardation, long eyelashes-intellectual disability syndrome, OMCS, trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Definition: 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.
Ontology: Human Disease [DOID:0111271]   ( DOID:0111271 )

Relationships
is a type of: autosomal recessive disease syndrome