MRT46 is characterised by nonsyndromic intellectual disability, delayed psychomotor development and behavioral abnormalities. Hypotonia and seizures are also observed in some patients. MRT46 is associated with homozygous mutation in NDST1 gene.
Mental and behavioural disorders
Mental retardation
Autosomal recessive
5q33.1
MRT46 is characterised by nonsyndromic intellectual disability, delayed psychomotor development and behavioral abnormalities. Hypotonia and seizures are also observed in some patients. MRT46 is associated with homozygous mutation in NDST1 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616116.1 | Saudi Arabia | Male | Yes | Yes | Neonatal hypotonia; Seizure Neonatal hypotonia; Seizure  | NM_001543.5:c.985C>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 | |
| 616116.2 | Saudi Arabia | Unknown | Seizure; Global developmental delay; Cho... Seizure; Global developmental delay; Chorioretinal degeneration | NM_001543.5:c.985C>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 |