CLN12 / ATP13A2

Disease with juvenile onset in one family

There are limited diagnoses of CLN12 in individuals with homozygous ATP13A2 mutations.
Mutations in ATP13A2 typically cause other diseases (Kufor-Rakeb syndrome, late-onset autosomal recessive spastic paraplegia 78 (SPG78) and juvenile onset amyotrophic lateral sclerosis (ALS)).

Due to the small number of entries, patient and mutation information are in a single table

cln12_patient_and_mutation_apr24.xlsx

cln12_patient_and_mutation_apr24.xlsx