Albums and FRAME Projects tagged with "intellectual disability"
Smith Lemli Opitz Syndrome (SLOS) is an autosomal recessive disorder, caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene [...]
Smith-Magenis syndrome is a rare chromosomal disorder characterized by a specific pattern of physical, behavioral, and developmental features. It is [...]
Tetrasomy 18p occurs when there is an extra chromosome made of material from the short arm of chromosome 18. Tetrasomy [...]
Isodicentric chromosome 15, abbreviated idic(15), is diagnosed in individuals who have 47 chromosomes (or sometimes more) instead of the typical [...]
Joubert syndrome, a rare genetic disorder characterized by partial or complete absence of a certain area of the brain (cerebellar [...]
Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of [...]
Individuals born with Down syndrome have an extra copy of chromosome 21. The presence of an extra chromosome causes mild [...]
A closer look at the impact of epilepsy in in individuals living with Intellectual and Development disabilities.
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics.
Hunter Syndrome (or Mucopolysaccharidosis/MPS II) is a rare condition affecting between 1 in 100,000 to 1 in 150,000 male births. [...]
11q terminal deletion disorder is a rare genetic disorder. About 1 baby in 100,000 is born with Jacobsen syndrome. The [...]
Chromosome 18 includes 18p-, 18q-, Ring 18, Tetrasomy 18p, and Trisomy 18. 18p can cause heart defects and holoprosencephaly, a [...]
Costello syndrome affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial [...]
Individuals born with Down syndrome have an extra copy of chromosome 21. The presence of an extra chromosome causes mild [...]
A closer look at the impact of epilepsy in in individuals living with Intellectual and Development disabilities.
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics.