Condition: Speech Delay
rs869320624 in
EMC1-AS1;EMC1 gene and
Speech Delay
PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
rs587779351 in
XRCC4 gene and
Speech Delay
PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.