Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
16p13.3
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613254.1 | Lebanon | Intellectual disability; Global develop... Intellectual disability; Global developmental delay; Seizure  | NM_000548.5:c.1832G>A | Heterozygous | Autosomal, Dominant | Nair et al. 2018 |