trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
MONDO:0019287
ectodermal dysplasia syndrome
is_a
OMCS
related
Oliver McFarlane syndrome
related
Oliver-McFarlane syndrome
exact
eyelashes, long with intellectual disability
related
eyelashes, long, with mental retardation
related
long eyelashes-intellectual disability syndrome
exact
trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
related
trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina
related
SPCC4B3.04c