Mental and behavioural disorders
Mental retardation
Autosomal dominant
17q23.2
MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618050.1 | United Arab Emirates | Male | No | No | Global developmental delay; Attention de... Global developmental delay; Attention deficit hyperactivity disorder  | NM_001284333.1:c.1850C>T | Heterozygous | Saleh et al. 2021 | de novo mutation |