MRD1 is characterised by intellectual disability and variable other clinical features such as motor delay, autism, or seizures. It is associated with heterozygous variants in MBD5 gene.
Mental and behavioural disorders
Mental retardation
Autosomal dominant
2q23.1
MRD1 is characterised by intellectual disability and variable other clinical features such as motor delay, autism, or seizures. It is associated with heterozygous variants in MBD5 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 156200.1 | Saudi Arabia | Male | No | No | Intellectual disability; Seizure; Autism Intellectual disability; Seizure; Autism  | NM_001378120.1:c.118A>G | Heterozygous | Monies et al. 2017 |