Rare Disease Library

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Acro-renal-mandibular syndrome

Split hand/split foot-mandibular hypoplasia syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Björnstad syndrome

Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome

Cataract-deafness-hypogonadism syndrome

Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Deafness-vitiligo-achalasia syndrome

Hearing loss-vitiligo-achalasia syndrome

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome · PEBAS

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

MFHIEN · Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome

Oromandibular-limb hypogenesis syndrome

Oroacral syndrome

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Progeroid syndrome

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome