Condition: Gross motor development delay


rs1554904159 in BRSK2;LOC107984298 gene and Gross motor development delay PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs1287121256 in CAMK2A gene and Gross motor development delay PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Gross motor development delay PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1057521721 in GRIA3 gene and Gross motor development delay PMID 29016847 2017 A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

rs1034395178 in LZTR1 gene and Gross motor development delay PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs587777893 in MTOR gene and Gross motor development delay PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs121908557 in SCN4A;LOC105371858 gene and Gross motor development delay PMID 19065518 2008 [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

rs312262717 in SPG11 gene and Gross motor development delay PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.