Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
7q36.1
Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617768.1 | United Arab Emirates | Female | Yes | Motor delay; Global developmental delay;... Motor delay; Global developmental delay; Abnormal facial shape  | NM_170606.3:c.9391C>T | Heterozygous | Autosomal, Dominant | Mahfouz et al. 2020 |