H01238 | |
H number | H01238 |
Name | Phelan-McDermid syndrome; Chromosome 22q13.3 deletion syndrome |
Description | Phelan-McDermid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. It has been indicated that this syndrome may also be caused by mutations in the SHANK3/PROSAP2 gene. |
Category | Chromosomal abnormality |
Network | - |
Gene | SHANK3 [HSA:85358] [KO:K15009] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD44.NY ICD-10: Q93.5 MeSH: C536801 OMIM: 606232 |
Reference | PMID:11431708 AUTHORS Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O TITLE Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. JOURNAL Am J Hum Genet 69:261-8 (2001) DOI:10.1086/321293 |