| Symbol
| CHQL3
|
| Location
| 8q12.1
|
| Name
|
cerebellar hypoplasia and quadrupedal locomotion 3 |
| Other name(s)
|
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 |
| Corresponding gene
|
CA8
|
| Other symbol(s)
| CAMRQ3
|
| Main clinical features
|
mild mental retardation and congenital ataxia characterized by quadrupedal gait
walk on the hands and feet with the legs held straight with a “bear-like” gait |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| neurology |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
|
|
| abnormal protein/loss of function
|
| |