Rare Disease Library

Autosomal dominant optic atrophy and congenital deafness

Konigsmark-Knox-Hussels syndrome · Autosomal dominant optic atrophy and congenital hearing loss

Conductive deafness-malformed external ear syndrome

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

Kousseff syndrome

Sacral meningocele-conotruncal heart defects syndrome