Condition: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
rs587777030 in
HCFC1R1;THOC6 gene and
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.
rs150940923 in
THOC6 gene and
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
PMID 27295358 2016 Whole-exome sequencing identified three linked homozygous missense variants in THOC6 (c.298T>A, p.Trp100Arg; c.700G>C, p.Val234Leu; c.824G>A, p.Gly275Asp) as the likely cause of this child's intellectual disability syndrome, resulting in a molecular diagnosis of Beaulieu-Boycott-Innes syndrome (BBIS).
PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
rs200426926 in
THOC6;BICDL2 gene and
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
PMID 27295358 2016 Whole-exome sequencing identified three linked homozygous missense variants in THOC6 (c.298T>A, p.Trp100Arg; c.700G>C, p.Val234Leu; c.824G>A, p.Gly275Asp) as the likely cause of this child's intellectual disability syndrome, resulting in a molecular diagnosis of Beaulieu-Boycott-Innes syndrome (BBIS).
rs138632121 in
THOC6;HCFC1R1 gene and
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
PMID 27295358 2016 Whole-exome sequencing identified three linked homozygous missense variants in THOC6 (c.298T>A, p.Trp100Arg; c.700G>C, p.Val234Leu; c.824G>A, p.Gly275Asp) as the likely cause of this child's intellectual disability syndrome, resulting in a molecular diagnosis of Beaulieu-Boycott-Innes syndrome (BBIS).