Condition: Severe global developmental delay
rs121434578
in
ABAT
gene and
Severe global developmental delay
PMID 20052547
2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
rs1555743003
in
ASXL3
gene and
Severe global developmental delay
PMID 27075689
2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555652383
in
BPTF
gene and
Severe global developmental 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 global developmental delay
PMID 27159400
2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
rs724159991
in
TMEM186;ABAT
gene and
Severe global developmental delay
PMID 20052547
2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.