has characteristic has characteristic has material basis in germline mutation in CDH3 hypotrichosis congenital hypotrichosis with juvenile macular dystrophy https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/hypotrichosis_congenital_with_juvenile_macular_dystrophy A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. GARD:0003066 Orphanet:1573 juvenile macular degeneration and hypotrichosis MEDGEN:316921 HJMD DOID:0110711 hypotrichosis with juvenile macular dystrophy MONDO:0011107 juvenile macular dystrophy and congenital hypotrichosis UMLS:C1832162 MESH:C537698 hypotrichosis, congenital, with juvenile macular dystrophy hypotrichosis with cone-rod dystrophy OMIM:601553 Hjmd ectodermal dysplasia syndrome congenital