congenital hypotrichosis with juvenile macular dystrophy
A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
MONDO:0003037
hypotrichosis
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
HJMD
exact
Hjmd
exact
hypotrichosis with cone-rod dystrophy
exact
hypotrichosis with juvenile macular dystrophy
exact
hypotrichosis, congenital, with juvenile macular dystrophy
related
juvenile macular degeneration and hypotrichosis
related
juvenile macular dystrophy and congenital hypotrichosis
related