Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
18q12.1
Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615485.1 | Saudi Arabia | Male | No | Yes | Failure to thrive; Microcephaly; Intelle... Failure to thrive; Microcephaly; Intellectual disability; Neurodevelopmental delay; Delayed speech and language development; Hypotonia; Muscle weakness  | NM_030632.3:c.4120_4123dup | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |