This is an extremely rare neurodevelopmental disorder, caused by biallelic mutations in the MTMR9 gene.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
8p23.1
This is an extremely rare neurodevelopmental disorder, caused by biallelic mutations in the MTMR9 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 606260.1 | Saudi Arabia | Male | Yes | Yes | Intellectual disability; Microcephaly; G... Intellectual disability; Microcephaly; Global developmental delay; Spasticity; Infantile spasms  | NM_015458.4:c.1415A>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2019 | Two sisters with ID |