CCDC22 |
X-linked recessive |
Ritscher–Schinzel syndrome 2; intellectual disability |
[92] |
Strumpellin |
Autosomal Recessive |
Ritscher–Schinzel syndrome 1 |
[132] |
|
Autosomal Recessive |
Spastic paraplegia 8, autosomal dominant |
[133] |
C16orf62 |
Autosomal Recessive |
Ritscher–Schinzel syndrome 3 |
[134] |
VPS26C |
|
Down syndrome |
[135] |
VPS35 |
Autosomal dominant |
Parkinson disease 17 |
[136] |
RAB7 |
Autosomal dominant |
Charcot–Marie–Tooth disease, type 2B |
[137] |
SWIP |
Autosomal dominant |
Mental retardation, autosomal recessive 43 |
[138] |
RAB11B |
Autosomal dominant |
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter |
[139] |
CHMP2B |
Autosomal dominant |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
[110,140,141] |
CHMP4B |
Autosomal dominant |
Cataract 31, multiple types |
[142] |