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.