Condition: Small hand


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.