Rare Disease Library

Hirschsprung disease-deafness-polydactyly syndrome

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

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease-hearing loss syndrome · CMT1E

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Ectrodactyly-polydactyly syndrome

Haddad syndrome

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

Hirschsprung disease

Aganglionic megacolon · Congenital intestinal aganglionosis

Hirschsprung disease-ganglioneuroblastoma syndrome

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Al Gazali-Donnai-Muller syndrome

Hirschsprung disease-type D brachydactyly syndrome

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

Syndactyly-polydactyly-ear lobe syndrome