Rare Disease Library

Congenital cataract-hearing loss-severe developmental delay syndrome

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

Fatal post-viral neurodegenerative disorder

Miscellaneous movement disorder due to genetic neurodegenerative disease

Miscellaneous movement disorder due to neurodegenerative disease

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency