Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
Autosomal recessive
4q22.1-q22.2
Autosomal recessive spinocerebellar ataxia-18 (SCAR18) is a neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability. Brain imaging shows progressive cerebellar atrophy. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616204.1 | Saudi Arabia | Female | Yes | Abnormal hindbrain morphology Abnormal hindbrain morphology  | NC_000004.11:g.(?_93978239)_(94078203_?)del | Homozygous | Autosomal, Recessive, De novo | Charng et al. 2016 | Proband from 'family... |