Kabuki syndrome
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015216
obsolete syndromic diaphragmatic or abdominal wall malformation (obsolete MONDO:0015216)
excluded_subClassOf
MONDO:0015246
obsolete syndromic anorectal malformation (obsolete MONDO:0015246)
excluded_subClassOf
MONDO:0020159
congenital entropion
excluded_subClassOf
MONDO:0020161
congenital ectropion
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
KMS
exact
Kabuki make-up syndrome
exact
NKS
related
Niikawa-Kuroki syndrome
exact
SPBC23E6.09