rs867410737 in
ATP5F1D gene and
Small hand
PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
rs1555639076 in
BPTF gene and
Small hand
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1554333853 in
CDK13 gene and
Small hand
PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs864309487 in
GMNN gene and
Small hand
PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
rs1567368243 in
SIN3A gene and
Small hand
PMID 30267900 2019 Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.