Condition: Central hypotonia


rs180177035 in BRAF gene and Central hypotonia PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

rs1554943158 in DEAF1 gene and Central hypotonia PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs748787734 in TUBB4A gene and Central hypotonia PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.