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Microcephaly 24, primary, autosomal recessive(MCPH24)

MedGen UID:
1648413
Concept ID:
C4748555
Disease or Syndrome
Synonyms: MCPH24; MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE
 
Gene (location): NUP37 (12q23.2)
 
Monarch Initiative: MONDO:0032583
OMIM®: 618179

Clinical features

From HPO
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Primary microcephaly
MedGen UID:
383046
Concept ID:
C2677180
Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.

Recent clinical studies

Etiology

Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225Free PMC Article
Limoge F, Faivre L, Gautier T, Petit JM, Gautier E, Masson D, Jego G, El Chehadeh-Djebbar S, Marle N, Carmignac V, Deckert V, Brindisi MC, Edery P, Ghoumid J, Blair E, Lagrost L, Thauvin-Robinet C, Duplomb L
Hum Mol Genet 2015 Dec 1;24(23):6603-13. Epub 2015 Sep 10 doi: 10.1093/hmg/ddv366. PMID: 26358774

Diagnosis

Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225Free PMC Article
Xu S, Zhang W, Zhou R, Huang H, Chen W, Xiang W, Liu L, Song J
Clin Dysmorphol 2022 Jan 1;31(1):1-5. doi: 10.1097/MCD.0000000000000395. PMID: 34693918
Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H
Eur J Hum Genet 2016 Dec;24(12):1702-1706. Epub 2016 Sep 21 doi: 10.1038/ejhg.2016.119. PMID: 27650967Free PMC Article
Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA
Eur J Hum Genet 2016 Apr;24(4):607-10. Epub 2015 Jul 22 doi: 10.1038/ejhg.2015.156. PMID: 26197979Free PMC Article
Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC
Med Oral Patol Oral Cir Bucal 2006 May 1;11(3):E236-8. PMID: 16648759

Prognosis

Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225Free PMC Article
Batool T, Irshad S, Mahmood K
Braz J Biol 2021;83:e246040. Epub 2021 Aug 6 doi: 10.1590/1519-6984.246040. PMID: 34378666
Rupp V, Rauf S, Naveed I, Windpassinger C, Mir A
BMC Med Genet 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4. PMID: 25303973Free PMC Article
Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M
Hum Mol Genet 2012 Dec 15;21(24):5306-17. Epub 2012 Sep 13 doi: 10.1093/hmg/dds386. PMID: 22983954
Kumar A, Girimaji SC, Duvvari MR, Blanton SH
Am J Hum Genet 2009 Feb;84(2):286-90. doi: 10.1016/j.ajhg.2009.01.017. PMID: 19215732Free PMC Article

Clinical prediction guides

Batool T, Irshad S, Mahmood K
Braz J Biol 2021;83:e246040. Epub 2021 Aug 6 doi: 10.1590/1519-6984.246040. PMID: 34378666
Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H
Eur J Hum Genet 2016 Dec;24(12):1702-1706. Epub 2016 Sep 21 doi: 10.1038/ejhg.2016.119. PMID: 27650967Free PMC Article
Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA
Eur J Hum Genet 2016 Apr;24(4):607-10. Epub 2015 Jul 22 doi: 10.1038/ejhg.2015.156. PMID: 26197979Free PMC Article
Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G
Hum Mol Genet 2015 Jul 1;24(13):3708-17. Epub 2015 Apr 3 doi: 10.1093/hmg/ddv115. PMID: 25839420
Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC
Med Oral Patol Oral Cir Bucal 2006 May 1;11(3):E236-8. PMID: 16648759

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