Schuurs-Hoeijmakers syndrome (SHMS) is characterized by impaired intellectual development, distinct craniofacial features, and variable additional congenital abnormalities. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
11q13.1-q13.2
Schuurs-Hoeijmakers syndrome (SHMS) is characterized by impaired intellectual development, distinct craniofacial features, and variable additional congenital abnormalities. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615009.1 | United Arab Emirates | Male | No | Yes | Global developmental delay; Seizure; Int... Global developmental delay; Seizure; Intellectual disability; Abnormal heart morphology  | NM_018026.3:c.607C>T | Heterozygous | Saleh et al. 2021 | de novo mutation | |
| 615009.2 | United Arab Emirates | Female | No | No | Global developmental delay Global developmental delay | NM_018026.3:c.607C>T | Heterozygous | Saleh et al. 2021 | de novo mutation |