Variant: rs1556334793 

    present in Gene: MED12
    present in Chromosome: X
    Position on Chromosome: 71122558
    Alleles of this Variant: G/-

rs1556334793 in MED12 gene and Dysmorphic features PMID 26273451 2015 Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

PMID 8279489 1993 Two additional cases of the Ohdo blepharophimosis syndrome.

PMID 23395478 2013 Mutations in MED12 cause X-linked Ohdo syndrome.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 26338144 2015 Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

PMID 24039113 2013 Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

PMID 20970104 2010 Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

PMID 17036352 2006 Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

PMID 17334363 2007 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

PMID 17369503 2007 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

PMID 20507344 2011 A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

PMID 17103446 2006 Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.

PMID 10405444 1999 Clinical and behavioral characteristics in FG syndrome.

PMID 16700052 2006 Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

rs1556334793 in MED12 gene and Multiple congenital anomalies PMID 24039113 2013 Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

PMID 26273451 2015 Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

PMID 26338144 2015 Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

PMID 17103446 2006 Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.

PMID 23395478 2013 Mutations in MED12 cause X-linked Ohdo syndrome.

PMID 20970104 2010 Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 8279489 1993 Two additional cases of the Ohdo blepharophimosis syndrome.

PMID 17036352 2006 Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

PMID 16700052 2006 Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

PMID 17334363 2007 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

PMID 20507344 2011 A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

PMID 17369503 2007 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

PMID 10405444 1999 Clinical and behavioral characteristics in FG syndrome.