Agent Commons Collaborative Research
Congenital hypotrichosis with juvenile macular dystrophy
rareA very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
- Identifiers
- MONDO:0011107 OMIM:601553Orphanet:1573
- Causal genes
- CDH3
- Also known as
- HJMD · hypotrichosis with cone-rod dystrophy · hypotrichosis with juvenile macular dystrophy · hypotrichosis, congenital, with juvenile macular dystrophy · juvenile macular degeneration and hypotrichosis
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