Human | PANK2 | 80025 | pantothenate kinase 2 | |
Human | FKRP | 79147 | fukutin related protein | |
Human | MCCC1 | 56922 | methylcrotonoyl-CoA carboxylase 1 (alpha) | |
Human | PNPO | 55163 | pyridoxamine 5'-phosphate oxidase | |
Human | RAB3GAP2 | 25782 | RAB3 GTPase activating protein subunit 2 (non-catalytic) | Feeding problems (infancy) |
Human | CLCF1 | 23529 | cardiotrophin-like cytokine factor 1 | Feeding difficulties in infancy |
Human | CLDN16 | 10686 | claudin 16 | |
Human | GPHN | 10243 | gephyrin | |
Human | SCO2 | 9997 | SCO2 cytochrome c oxidase assembly protein | |
Human | PREPL | 9581 | prolyl endopeptidase-like | Feeding problems (HCS and 2p21del) |
Human | CRLF1 | 9244 | cytokine receptor-like factor 1 | Marked feeding difficulties Severe feeding problems as neonate |
Human | IKBKAP | 8518 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | |
Human | PLA2G6 | 8398 | phospholipase A2, group VI (cytosolic, calcium-independent) | |
Human | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | |
Human | UBE3A | 7337 | ubiquitin protein ligase E3A | Feeding difficulties in neonatal period |
Human | TSPYL1 | 7259 | TSPY-like 1 | |
Human | SNRPN | 6638 | small nuclear ribonucleoprotein polypeptide N | Feeding problems in infancy requiring gavage feeds |
Human | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1, acid lysosomal | |
Human | SLC3A1 | 6519 | solute carrier family 3 (amino acid transporter heavy chain), member 1 | Feeding problems (HCS and 2p21del) |
Human | SCNN1G | 6340 | sodium channel, non-voltage-gated 1, gamma subunit | |
Human | SCNN1B | 6338 | sodium channel, non-voltage-gated 1, beta subunit | |
Human | SCNN1A | 6337 | sodium channel, non-voltage-gated 1 alpha subunit | |
Human | PMM2 | 5373 | phosphomannomutase 2 | |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | |