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congenital hypotrichosis with juvenile macular dystrophy | RareConnect | RareConnect.io

/ectodermal dysplasia syndrome

/congenital hypotrichosis with juvenile macular dystrophy

congenital hypotrichosis with juvenile macular dystrophy

Rare Disease

MONDO:0011107

Also Known As

HJMDHjmdhypotrichosis with cone-rod dystrophyhypotrichosis with juvenile macular dystrophyhypotrichosis with juvenile macular degenerationhypotrichosis, congenital, with juvenile macular dystrophyjuvenile macular degeneration and hypotrichosisjuvenile macular dystrophy and congenital hypotrichosis

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:601553 ↗

Orphanet

Orphanet:1573 ↗

GARD

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