Rare Disease Library

Conductive deafness-malformed external ear syndrome

Conductive hearing loss-malformed external ear syndrome · Mengel-Konigsmark syndrome

Conductive deafness-ptosis-skeletal anomalies syndrome

Jackson-Barr syndrome · Conductive hearing loss-ptosis-skeletal anomalies syndrome

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Dysmorphism-conductive hearing loss-heart defect syndrome

Jervell and Lange-Nielsen syndrome

Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome

Johnson neuroectodermal syndrome

Alopecia-anosmia-deafness-hypogonadism syndrome · Johnson-McMillin syndrome

Lowe-Kohn-Cohen syndrome

Deafness-nephritis-ano-rectal malformation syndrome · Hearing loss-nephritis-ano-rectal malformation syndrome

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Thickened earlobes-conductive deafness syndrome

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

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2