Rare Disease Library

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

Deafness-small bowel diverticulosis-neuropathy syndrome

Hearing loss-small bowel diverticulosis-neuropathy syndrome · Groll-Hirschowitz syndrome

Hirschsprung disease

Aganglionic megacolon · Congenital intestinal aganglionosis

Hirschsprung disease-deafness-polydactyly syndrome

Hirschsprung disease-hearing loss-polydactyly syndrome · Santos-Mateus-Leal syndrome

Hirschsprung disease-ganglioneuroblastoma syndrome

Hirschsprung disease-type D brachydactyly syndrome

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Thickened earlobes-conductive deafness syndrome

Thickened earlobes-conductive hearing loss syndrome · Escher-Hirt syndrome

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p