Congenital hypotrichosis with juvenile macular dystrophy

MONDO:0011107

A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

Also known as: HJMD, Hjmd, hypotrichosis with cone-rod dystrophy, hypotrichosis with juvenile macular dystrophy, hypotrichosis with juvenile macular degeneration, hypotrichosis, congenital, with juvenile macular dystrophy, juvenile macular degeneration and hypotrichosis, juvenile macular dystrophy and congenital hypotrichosis

0 clinical trials for this condition and its sub-types, 0 tagged with Congenital hypotrichosis with juvenile macular dystrophy itself.

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Part of

↑ Ectodermal dysplasia syndrome (45) ↑ Hypotrichosis (6)

Including sub-types (0) Tagged with Congenital hypotrichosis with juvenile macular dystrophy (0)

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