Condition: Severe expressive language delay
rs1555652383
in
BPTF
gene and
Severe expressive language delay
PMID 28942966
2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs587777893
in
MTOR
gene and
Severe expressive language delay
PMID 27159400
2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.