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. Author manuscript; available in PMC: 2020 Jul 1.
Published in final edited form as: J Pediatr. 2019 Mar 8;210:214–219.e2. doi: 10.1016/j.jpeds.2019.01.047

Table 1.

OMIM genes within genomic deletion identified in patient 4.

Gene Symbol Gene Name
MLYCD malonyl-CoA decarboxylase
OSGIN1 oxidative stress induced growth inhibitor 1
SLC38A8 solute carrier family 38 member 8
MBTPS1 membrane bound transcription factor peptidase, site 1
DNAAF1 dynein axonemal assembly factor 1
TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C
KCNG4 potassium voltage-gated channel modifier subfamily G member 4
WFDC1 WAP four-disulfide core domain 1
ATP2C2 ATPase secretory pathway Ca2+ transporting 2
COTL1 coactosin like F-actin binding protein 1
USP10 ubiquitin specific peptidase 10
CRISPLD2 cysteine rich secretory protein LCCL domain containing 2
ZDHHC7 zinc finger DHHC-type containing 7
KIAA0513 KIAA0513
FAM92B family with sequence similarity 92 member B
GSE1 Gse1 coiled-coil protein
GINS2 GINS complex subunit 2
EMC8 ER membrane protein complex subunit 8
COX4I1 cytochrome c oxidase subunit 4I1
IRF8 interferon regulatory factor 8
LINC01082 long intergenic non-protein coding RNA 1082
LINC01081 long intergenic non-protein coding RNA 1081