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Intellectual developmental disorder with macrocephaly, seizures, and speech delay(IDDMSSD)

MedGen UID:
1648339
Concept ID:
C4748428
Disease or Syndrome
Synonyms: IDDMSSD; INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
 
PAK1 (11q13.5-14.1)
 
Monarch Initiative: MONDO:0032568
OMIM®: 618158

Definition

IDDMSSD is a neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures (Harms et al., 2018). [from OMIM]

Clinical features

From HPO

Professional guidelines

PubMed

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E
J Med Genet 2015 Dec;52(12):804-14. Epub 2015 Sep 30 doi: 10.1136/jmedgenet-2015-103184. PMID: 26424144

Recent clinical studies

Etiology

Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH; Simons VIP Consortium
Am J Med Genet A 2016 Nov;170(11):2943-2955. Epub 2016 Jul 13 doi: 10.1002/ajmg.a.37820. PMID: 27410714
Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E
J Med Genet 2015 Dec;52(12):804-14. Epub 2015 Sep 30 doi: 10.1136/jmedgenet-2015-103184. PMID: 26424144
Valvo G, Baldini S, Brachini F, Apicella F, Cosenza A, Ferrari AR, Guerrini R, Muratori F, Romano MF, Santorelli FM, Tancredi R, Sicca F
PLoS One 2013;8(9):e75015. Epub 2013 Sep 23 doi: 10.1371/journal.pone.0075015. PMID: 24086423Free PMC Article

Diagnosis

Corriveau ML, Amaya SI, Koebel MC, Lerma VC, Michener SL, Turner A, Schultz RJ, Seto ES, Diaz-Medina GE, Craigen WJ, Swann JW, Xue M, Chao HT
Am J Med Genet A 2023 Jun;191(6):1619-1625. Epub 2023 Mar 10 doi: 10.1002/ajmg.a.63177. PMID: 36905087
Zhuang J, Xie M, Yao J, Fu W, Zeng S, Jiang Y, Wang Y, Xie Y, Wang G, Chen C
BMC Med Genomics 2023 Jan 9;16(1):3. doi: 10.1186/s12920-023-01433-x. PMID: 36624491Free PMC Article
Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K
Sci Adv 2019 Sep;5(9):eaax2166. Epub 2019 Sep 25 doi: 10.1126/sciadv.aax2166. PMID: 31579823Free PMC Article
Trinh J, Kandaswamy KK, Werber M, Weiss MER, Oprea G, Kishore S, Lohmann K, Rolfs A
J Neurodev Disord 2019 Jun 25;11(1):11. doi: 10.1186/s11689-019-9270-4. PMID: 31238879Free PMC Article
Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Kini U, McKee S, Yates L, Bertoli M, Lynch SA, Holder S; Deciphering Developmental Disorders Study, Banka S
Clin Genet 2019 Jul;96(1):72-84. Epub 2019 May 14 doi: 10.1111/cge.13554. PMID: 31001818

Clinical prediction guides

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E
J Med Genet 2015 Dec;52(12):804-14. Epub 2015 Sep 30 doi: 10.1136/jmedgenet-2015-103184. PMID: 26424144
Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR
J Med Genet 2010 May;47(5):332-41. Epub 2009 Nov 12 doi: 10.1136/jmg.2009.073015. PMID: 19914906Free PMC Article
Battaglia A, Chines C, Carey JC
Am J Med Genet A 2006 Oct 1;140(19):2075-9. doi: 10.1002/ajmg.a.31302. PMID: 16691600

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