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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 ...
NNZ-2591 is a synthetic analog of cyclic glycine-proline and experimental drug developed for Angelman syndrome, Phelan-McDermid syndrome, Pitt Hopkins syndrome, [1] [2] and Prader-Willi syndrome. [ 3 ]
1 D 1:7,500 1q21.1 deletion syndrome: 1q21.1 D 2q37 deletion syndrome: 2q37 D 5q deletion syndrome: 5q D 5,10-methenyltetrahydrofolate synthetase deficiency: MTHFS [2] 7p22.1 microduplication syndrome: 7p22.1 17q12 microdeletion syndrome: 17q12 [3] [4] 1:14,000-62,500 17q12 microduplication syndrome: 17q12 [5] 18p deletion syndrome: 18p D 1:50,000
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 ]
58234 Ensembl ENSG00000251322 ENSMUSG00000022623 UniProt Q9BYB0 Q4ACU6 RefSeq (mRNA) NM_001080420 NM_001372044 NM_021423 RefSeq (protein) NP_277052 NP_067398 Location (UCSC) Chr 22: 50.67 – 50.73 Mb Chr 15: 89.38 – 89.44 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 ...
Macrocephaly is a condition in which circumference of the human head is abnormally large. [1] It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders .
[1] [3] [4] MECP2 duplication syndrome: Monogenic disorder: MECP2: X: 100% [in a single study composed by 9 male participants] Clinically defined: Brachycephaly, spasticity, recurrent respiratory infections, gastrointestinal hypermotility, genitourinary abnormalities, epilepsy, ID [1] [4] [7] Tuberous sclerosis complex: Monogenic disorder: TSC1 ...
1q21.1 duplication syndrome arises from microduplications of the BP3-BP4 region, containing at least seven genes and a minimum duplicated region of ~1.2 Mb of unique DNA sequence. [7] 1q21.1 duplication syndrome has an autosomal dominant inheritance pattern, where 18–50% of deletions happen de novo and 50–82% are inherited from their ...