Neurodevelopmental disorder with microcephaly

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[5]. Isaac Marin-Valencia, et al. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet. 2018 Jan;55(1):48-54. [Content Brief]

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[13]. Pamela Magini, et al. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3;105(4):689-705. [Content Brief]

[14]. Shereen Georges Ghosh, et al. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet. 2020 Apr;57(4):274-282. [Content Brief]

[15]. Tahir N Khan, et al. Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. Am J Hum Genet. 2019 Jan 3;104(1):94-111. [Content Brief]

[16]. Tiong Yang Tan, et al. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet. 2020 Apr 2;106(4):467-483. [Content Brief]

[17]. William L Macken, et al. Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. Genome Med. 2021 Feb 25;13(1):34. [Content Brief]

[18]. Zafar Iqbal, et al. Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. Genet Med. 2019 Aug;21(8):1790-1796. [Content Brief]