MRT13 is an autosomal recessive condition characterised by moderate to severe intellectual disability, postnatal microcephaly, facial dysmorphia and brain anomalies.
Mental and behavioural disorders
Mental retardation
Autosomal recessive
8q24.3
MRT13 is an autosomal recessive condition characterised by moderate to severe intellectual disability, postnatal microcephaly, facial dysmorphia and brain anomalies.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613192.1 | Egypt | Male | No | Yes | Intellectual disability, moderate; Hypot... Intellectual disability, moderate; Hypotonia; Gait disturbance; EEG abnormality; Cerebral atrophy  | NM_001160372.4:c.167_187dup | Homozygous | Autosomal, Recessive | Reuter et al. 2017 | Authors classified t... |