Condition: Expressive language delay
rs1135401778
in
BPTF
gene and
Expressive language delay
PMID 28942966
2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1057519389
in
EBF3
gene and
Expressive language delay
PMID 28017372
2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
rs752746786
in
GNB1
gene and
Expressive language delay
PMID 27108799
2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.