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Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder .
GRIN2B-related neurodevelopmental disorder; Other names: GRIM2B-associated disorder: Specialty: Medical genetics, Pediatry, Neurology: Symptoms: Mainly developmental delays, intellectual disabilities, craniofacial dysmorphisms, behavioural problems and muscle tone anomalies
Disinhibited attachment disorder (DAD) according to the International Classification of Diseases (), is defined as: "A particular pattern of abnormal social functioning that arises during the first five years of life and that tends to persist despite marked changes in environmental circumstances, e.g. diffuse, nonselectively focused attachment behaviour, attention-seeking and indiscriminately ...
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. [1] 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases. [3] [4]
Blue rubber bleb nevus syndrome is a rare disorder that consists mainly of abnormal blood vessels affecting the skin or internal organs – usually the gastrointestinal tract. [1] The disease is characterized by the presence of fluid-filled blisters ( blebs ) as visible, circumscribed, chronic lesions ( nevi ).
One patient from the UK was documented as achieving nutritional independence at age 3. [10] On 26 June 2009, a six-year-old girl with microvillus inclusion disease became the third person in the UK to die of swine flu.
It was last recognized as a diagnosis in the DSM-IV and ICD-10, and has been superseded by autism spectrum disorder in the DSM-5 (2013) and ICD-11 (2022). Globally, classic autism was estimated to affect 24.8 million people as of 2015 [update] .
Snijders Blok–Campeau syndrome is a genetic disorder caused by mutations in the CHD3 gene. [1] It is characterized by impaired intellectual development , macrocephaly , dysarthria and apraxia of speech , and certain distinctive facial features .