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.