Condition: Intrauterine retardation


rs1060499548 in ABL1 gene and Intrauterine retardation PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1561875767 in CUL7;KLC4 gene and Intrauterine retardation PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs797044519 in DYRK1A gene and Intrauterine retardation PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs797044525 in DYRK1A;LOC105372797 gene and Intrauterine retardation PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs864309486 in GMNN gene and Intrauterine retardation PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

rs1559810905 in IFIH1 gene and Intrauterine retardation PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

rs724159949 in LOC105372797;DYRK1A gene and Intrauterine retardation PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs121908557 in SCN4A;LOC105371858 gene and Intrauterine retardation 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.

rs1334099693 in SOX4 gene and Intrauterine retardation PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1327062642 in TULP1 gene and Intrauterine retardation PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.