Rare Disease Library

Congenital hereditary facial paralysis-variable hearing loss syndrome

Congenital hereditary facial paralysis-variable deafness syndrome · Congenital hereditary facial palsy with variable deafness

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-deafness-severe developmental delay syndrome · Lethal neurodegenerative disorder due to copper transport defect

Isolated hereditary congenital facial paralysis