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. 2022 Jan 4;12:758899. doi: 10.3389/fneur.2021.758899
Gene ARV1 DPM1 MPDU1 GPAA1 PGAP1 PGAP2 PGAP3 PIGA PIGB PIGG
(A)
Number of patients 11 9 9 10 6 16 30 81 14 7
Encephalopathy 11 0 0 0 2 0 0 3 0 0
Seizures 11 8 8 7 1 6 17 76 14 6
Delayed motor development 5 7 7 0 3 8 28 61 0 3
DD/ID 8 7 9 10 3 13 28 70 13 5
Hypotonia 11 7 8 10 3 5 25 55 0 4
Hypertonia/ spasticity 8 0 1 4 1 0 0 4 1 0
Dystonia 6 0 0 0 0 0 0 7 0 0
Dyskinesia 2 0 0 0 1 0 0 8 0 0
Dysphagia 7 2 2 0 0 0 1 0 0 0
Dysarthria 5 0 0 5 0 0 0 0 0 0
Cerebellar atrophy 3 3 4 9 0 0 3 19 0 0
Cerebellar dysfunction 3 1 1 8 0 0 0 1 0 4
Nystagmus 3 3 1 8 2 1 1 1 0 0
Strabismus 0 1 4 0 1 2 0 5 0 0
Visual impairment 8 5 2 0 2 0 0 17 8 0