MRT6 is characterised by impaired intellectual development. Seizures and abnormalities of movement are also reported in some patients. It is associated with homozygous mutations in GRIK2 gene.
Mental and behavioural disorders
Mental retardation
Autosomal recessive
6q16.3
MRT6 is characterised by impaired intellectual development. Seizures and abnormalities of movement are also reported in some patients. It is associated with homozygous mutations in GRIK2 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 611092.1 | Saudi Arabia | Female | Yes | Global developmental delay; Seizure; Mic... Global developmental delay; Seizure; Microcephaly; Intellectual disability, severe  | NM_021956.5:c.2179C>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 |