| H01911 | |
| H number | H01911 |
| Name | Syndromic autosomal recessive mental retardation |
| Description | Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several genes have been identified for autosomal recessive mental retardation (ARMR). These genes have a variety of functions and participate in multiple biochemical pathways. ARMR is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found or not. Syndromic ARMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities. |
| Category | Mental and behavioural disorder |
| Network | - |
| Gene | (MRT34) CRADD [HSA:8738] [KO:K02832] (MRAMS) SOBP [HSA:55084] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 6A00 ICD-10: F78.9 MeSH: D008607 OMIM: 614499 613671 |
| Reference | PMID:21937992 AUTHORS Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH TITLE Deep sequencing reveals 50 novel genes for recessive cognitive disorders. JOURNAL Nature 478:57-63 (2011) DOI:10.1038/nature10423 PMID:27773430 AUTHORS Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN TITLE Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. JOURNAL Am J Hum Genet 99:1117-1129 (2016) DOI:10.1016/j.ajhg.2016.09.010 PMID:17618476 AUTHORS Basel-Vanagaite L, Rainshtein L, Inbar D, Gothelf D, Hennekam R, Straussberg R TITLE Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. JOURNAL Am J Med Genet A 143A:1687-91 (2007) DOI:10.1002/ajmg.a.31810 |