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amaurosis-hypertrichosis syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.
Mondo Term and Equivalent IDs
MONDO:0008766:  amaurosis-hypertrichosis syndrome
GARD:0000637: 
MESH:C536604: 
Orphanet:1021: 
SCTID:720983002: