ABC |
ATP binding cassette |
ASD |
autism spectrum disorder |
CRISPR |
Clustered regularly interspaced short palindromic repeats |
DNA |
Deoxyribonucleic acid |
DRD1 |
Dopamine receptor D1 |
FHA |
Forkhead associated domain |
HSAN |
Hereditary sensory and autonomic neuropathy |
HSP |
Hereditary spastic paraplegia |
HSV |
Herpes simplex virus |
KAND |
KIF1A associated neurological disorders |
KRD |
KIF1A related disorders |
LV |
Lenti virus |
OMIM |
Online Mendelian Inheritance in Man |
PEHO |
Progressive encephalopathy with oedema, Hypsarrhythmia and optic atrophy |
PH |
Pleckstrin homology |
rAAV |
recombinant Adenome associated virus |
SIFT |
Scale in variant feature transform |
SPG30 |
Spastic paraplegia 30 |
WES |
Whole exome sequencing |