Condition: Delayed speech and language development


rs587779766 in AHDC1 gene and Delayed speech and language development PMID 24791903 2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

rs387907144 in ARID1B gene and Delayed speech and language development PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs1135402760 in BRSK2 gene and Delayed speech and language development PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs1554904159 in BRSK2;LOC107984298 gene and Delayed speech and language development PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs1287121256 in CAMK2A gene and Delayed speech and language development PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Delayed speech and language development PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1553798675 in FGF12 gene and Delayed speech and language development PMID 27872899 2016 De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

rs797045140 in IQSEC2 gene and Delayed speech and language development PMID 26733290 2016 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

rs786200952 in KAT6A gene and Delayed speech and language development PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs758865880 in KYNU gene and Delayed speech and language development PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs1034395178 in LZTR1 gene and Delayed speech and language development PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

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

rs878853169 in NBEA gene and Delayed speech and language development PMID 30269351 2018 NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

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

rs139455627 in TSPEAR gene and Delayed speech and language development PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Delayed speech and language development PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1447313633 in ZNF142 gene and Delayed speech and language development PMID 31036918 2019 Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.