Condition: Feeding difficulties in infancy
rs387907144
in
ARID1B
gene and
Feeding difficulties in infancy
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.
rs867410737
in
ATP5F1D
gene and
Feeding difficulties in infancy
PMID 29478781
2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
rs1057524157
in
DEAF1
gene and
Feeding difficulties in infancy
PMID 28940898
2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
PMID 28213671
2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
rs1334099693
in
SOX4
gene and
Feeding difficulties in infancy
PMID 30661772
2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.