Albums and FRAME Projects tagged with "developmental delay"
Coffin-Siris syndrome is a genetic condition that affects multiple body systems. Variants in the ARID1B gene are the most common [...]
Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of [...]
Cute Syndrome refers to SCN8A Epilepsy (also known as SCN8A DEE), a rare disorder that causes a range of symptoms [...]
Smith Lemli Opitz Syndrome (SLOS) is an autosomal recessive disorder, caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene [...]
Noonan syndrome (NS) is a variably expressed, multisystem disorder with an estimated prevalence of 1 in 1,000 – 2,500 births. [...]
Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of [...]
Prader-Willi syndrome (PWS) is a variable and complex genetic neurobehavioral disorder resulting from abnormality on the 15th chromosome. It occurs [...]
Individuals born with Down syndrome have an extra copy of chromosome 21. The presence of an extra chromosome causes mild [...]
Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare form of intractable epilepsy that begins [...]
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics.
11q terminal deletion disorder is a rare genetic disorder. About 1 baby in 100,000 is born with Jacobsen syndrome. The [...]
Cockayne Syndrome (CS) is a rare genetic disorder characterized by poor growth, microcephaly, progeria (premature aging), sensitivity to sunlight, moderate [...]
Costello syndrome affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial [...]