Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Xq26.3
Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 300243.1 | Lebanon | Male | No | Infectious encephalitis; Optic neuropath... Infectious encephalitis; Optic neuropathy; Hypotonia; Seizure  | NM_006359.3:c.1255G>T | Hemizygous | X-linked, Dominant | Jalkh et al. 2019 |