Condition: Feeding difficulties
rs867410737
in
ATP5F1D
gene and
Feeding difficulties
PMID 29478781
2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
rs1554389088
in
CAMK2B
gene and
Feeding difficulties
PMID 29100089
2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
rs772037717
in
FBXL4
gene and
Feeding difficulties
PMID 27182039
2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
rs752746786
in
GNB1
gene and
Feeding difficulties
PMID 27108799
2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
rs786200952
in
KAT6A
gene and
Feeding difficulties
PMID 25728777
2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
rs397517159
in
SOS1
gene and
Feeding difficulties
PMID 17143282
2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
PMID 17586837
2007 SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
PMID 17143285
2007 Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
rs1554817910
in
ZMIZ1
gene and
Feeding difficulties
PMID 30639322
2019 ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.