Neurodevelopmental disorder with movement abnormalities or hypotonia

Definition:

Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or hypotonia. Several underlying genetic causes of these diseases have been identified.

References:

[1]. Anna R Duncan, et al. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. [Content Brief]

[2]. Atteeq U Rehman, et al. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Hum Mutat. 2019 Mar;40(3):267-280. [Content Brief]

[3]. Caroline M Dias, et al. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 Nov 7;105(5):1048-1056. [Content Brief]

[4]. Dana Marafi, et al. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 May;7(5):610-627. [Content Brief]

[5]. David J Tischfield, et al. Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation. Neurobiol Dis. 2017 Jul;103:174-183. [Content Brief]

[6]. Elizabeth E Palmer, et al. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. Am J Hum Genet. 2017 Dec 7;101(6):995-1005. [Content Brief]

[7]. Emma Wakeling, et al. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. HGG Adv. 2021 Jan 14;2(1):100015. [Content Brief]

[8]. Esther R Berko, et al. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 Feb;54(2):84-86. [Content Brief]

[9]. Kate Baker, et al. SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018 Sep 1;141(9):2576-2591. [Content Brief]

[10]. Matias Wagner, et al. Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. Am J Hum Genet. 2020 Feb 6;106(2):246-255. [Content Brief]

[11]. Shams Anazi, et al. Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2017 Nov;136(11-12):1419-1429. [Content Brief]

[12]. Sonja Martin, et al. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. Am J Hum Genet. 2017 Dec 7;101(6):1013-1020. [Content Brief]

[13]. Tokiko Fukuda, et al. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur J Med Genet. 2020 Apr;63(4):103804. [Content Brief]

[14]. Vincenzo Salpietro, et al. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. Am J Hum Genet. 2019 Apr 4;104(4):721-730. [Content Brief]

[15]. Yoav Zehavi, et al. De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. Eur J Med Genet. 2017 Jun;60(6):317-320. [Content Brief]

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