Rare Disease Library

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Bilateral microtia-deafness-cleft palate syndrome

Bilateral microtia-hearing loss-cleft palate syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

Cutaneous mastocytoma

Cutaneous local mastocytoma · Multiple mastocytoma

Cutaneous mastocytosis

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Diffuse cutaneous mastocytosis

DCM · Diffuse cutaneous maculopapulous mastocytosis

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Maculopapular cutaneous mastocytosis

Urticaria pigmentosa

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

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

Neutropenia-monocytopenia-deafness syndrome

Neutropenia-monocytopenia-hearing loss syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome