FG syndrome 1
Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0015246
obsolete syndromic anorectal malformation (obsolete MONDO:0015246)
excluded_subClassOf
MONDO:0002010
FG syndrome
is_a
MONDO:0100000
MED12-related intellectual disability syndrome
is_a
FG Syndrome Type 1
exact
FG syndrome 1
exact
FG syndrome caused by mutation in MED12
exact
MED12 FG syndrome
exact
OKS
related
Opitz-Kaveggia syndrome
related
Opitz-Kaveggia syndrome, X-linked recessive
exact
mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum
related
SPAC688.08