Condition: Muscular hypotonia of the trunk
rs1562846694 in
ACTL6B;TFR2 gene and
Muscular hypotonia of the trunk
PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
rs869320624 in
EMC1-AS1;EMC1 gene and
Muscular hypotonia of the trunk
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.
rs139455627 in
TSPEAR gene and
Muscular hypotonia of the trunk
PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
rs1569151872 in
TSPEAR-AS1;TSPEAR gene and
Muscular hypotonia of the trunk
PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.