Albums and FRAME Projects tagged with "hypotonia"
Smith-Magenis syndrome is a rare chromosomal disorder characterized by a specific pattern of physical, behavioral, and developmental features. It is [...]
Trisomy 13, also known as Patau Syndrome, occurs when there is an extra copy of chromosome 13.
Trisomy 18, also known as Edward Syndrome, occurs when there is an extra copy of chromosome 18. Trisomy 18 can [...]
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 [...]
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 [...]
Costello syndrome affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial [...]
Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare form of intractable epilepsy that begins [...]
Dup15q Syndrome is a neurodevelopmental disorder characterized by having an extra copy of a portion of chromosome 15 in the [...]
Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. [...]
Chromosome 18 includes 18p-, 18q-, Ring 18, Tetrasomy 18p, and Trisomy 18. 18p can cause heart defects and holoprosencephaly, a [...]
5p- Syndrome is a chromosomal deletion disorder resulting in a wide spectrum of intellectual and developmental abilities. Each year in [...]
