has material basis in germline mutation in MED12 FG syndrome FG syndrome 1 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9285 mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum Orphanet:93932 FG syndrome caused by mutation in MED12 SCTID:1237179007 OMIM:305450 FG syndrome type 1 Opitz-Kaveggia syndrome MEDGEN:1768809 NORD:1142 intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum FG syndrome Opitz-Kaveggia syndrome, X-linked recessive FG syndrome 1 GARD:0002317 FG Syndrome Type 1 MONDO:0010590 Keller syndrome UMLS:C5399762 OKS Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene. MED12 FG syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete syndromic anorectal malformation MED12-related intellectual disability syndrome