Synonyms: FGS1, Opitz-Kaveggia Syndrome
Chromosome: Xq13
Gene affected: MED12 with p.Arg961Trp
Inheritance: X-linked
Clinical features:
(1) The condition affects male offspring of heterozygous female carriers.
(2) intellectual disability
(3) hypotonia
(4) constipation and/or anorectal abnormalities (imperforate anus, other)
(5) behavioral issues (attention-seeking, hyperactive, friendly)
(6) relative macrocephaly
Facial features
(1) small and simple ears
(2) prominent forehead
(3) downward slanting palpebral fissures
(4) ocular hypertelorism
(5) frontal hair upsweep
Other findings:
(1) broad thumbs and great toes
(2) abnormalities of the corpus callosum
