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People with Williams syndrome tend to use speech that is rich in emotional descriptors, high in prosody (exaggerated rhythm and emotional intensity), and features unusual terms and strange idioms. [37] Among the hallmark traits of people with Williams syndrome is an apparent lack of social inhibition.
7q11.23 duplication syndrome (also called dup7 or 7dup or duplication of the Williams-Beuren syndrome critical region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7.
GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997 as GeneClinics by Roberta A Pagon ( University of Washington ) with funding from the National Institutes of Health . [ 1 ]
Pitt-Hopkins syndrome is clinically similar to Angelman syndrome, Rett-syndrome, Mowat Wilson syndrome, and ATR-X syndrome. [4] As more is learned about Pitt–Hopkins, the developmental spectrum of the disorder is widening, and can also include difficulties with anxiety, autism, [5] ADHD, and sensory disorders.
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. [3] Kabuki syndrome (KS) affects roughly one in ...
Fryns-Aftimos syndrome is a genetic conditions that presents with a multitude of varying signs, symptoms and characteristics facies. Commonly characterized by hypertelorism, congenital nonmyopathic ptosis, iris or retinal coloboma, deafness, epilepsy, and pachygyria. [5]
22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
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