Rare Disease Library

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

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

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

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

Deafness-enamel hypoplasia-nail defects syndrome

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

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome