Condition: Pediatric failure to thrive


rs1562846694 in ACTL6B;TFR2 gene and Pediatric failure to thrive PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs387907144 in ARID1B gene and Pediatric failure to thrive PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs1555743003 in ASXL3 gene and Pediatric failure to thrive PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

rs867410737 in ATP5F1D gene and Pediatric failure to thrive PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

rs1555639076 in BPTF gene and Pediatric failure to thrive PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1554389088 in CAMK2B gene and Pediatric failure to thrive PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs141970897 in CRAT gene and Pediatric failure to thrive PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

rs796051877 in GAA gene and Pediatric failure to thrive PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

rs864309487 in GMNN gene and Pediatric failure to thrive PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

rs752746786 in GNB1 gene and Pediatric failure to thrive PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs776679653 in ISCA1 gene and Pediatric failure to thrive PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs104894366 in KRAS gene and Pediatric failure to thrive PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.

PMID 20949621 2011 Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

PMID 17875939 2007 Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene.

rs1057519566 in MDH2 gene and Pediatric failure to thrive PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

rs121918460 in PTPN11 gene and Pediatric failure to thrive PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 12717436 2003 Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

PMID 15928039 2005 The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

PMID 15001945 2004 Genotype-phenotype correlations in Noonan syndrome.

rs80338796 in RAF1 gene and Pediatric failure to thrive PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs1557043622 in SLC35A2 gene and Pediatric failure to thrive PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs431905504 in SLC6A3 gene and Pediatric failure to thrive PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

rs1114167303 in SON gene and Pediatric failure to thrive PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

rs886039777 in SON;MIR6501 gene and Pediatric failure to thrive PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

rs863224229 in SURF2;SURF1 gene and Pediatric failure to thrive PMID 27756633 2016 Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

rs372949028 in TANGO2 gene and Pediatric failure to thrive PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.