Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
Autosomal recessive
2q11.2
Autosomal recessive spinocerebellar ataxia-22 (SCAR22) is characterized by adult-onset cerebellar ataxia, intellectual disability, hyperreflexia and spasticity. Brain imaging in one of the reported patient has shown cerebellar atrophy and thinning of corpus callosum.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616948.1 | Saudi Arabia | Male | Motor delay; Delayed speech and language... Motor delay; Delayed speech and language development; Intellectual disability; Failure to thrive; Abnormal facial shape; Hippocampal malrotation  | NM_144992.5:c.655G>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 |