MRT68 is characterised by moderate to severe intellectual disability and mild dysmorphic features. Anomalies involving limbs including spasticity and muscle weakness as well as abnormalities in brain imaging are noted in some patients.
Mental and behavioural disorders
Mental retardation
Autosomal recessive
19p13.13
MRT68 is characterised by moderate to severe intellectual disability and mild dysmorphic features. Anomalies involving limbs including spasticity and muscle weakness as well as abnormalities in brain imaging are noted in some patients.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618302.1 | Saudi Arabia | Male | No | Intellectual disability; Delayed speech ... Intellectual disability; Delayed speech and language development; Specific learning disability; Hypotonia  | NM_001136035.4:c.1332_1333del | Homozygous | Autosomal, Recessive | Monies et al. 2017 |