Mowat-Wilson syndrome
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015653
monogenic epilepsy
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
Hirschsprung disease intellectual disability syndrome
exact
Hirschsprung disease-intellectual disability syndrome
exact
Hirschsprung disease-mental retardation syndrome
related
MOWS
related
Mowat-Wilson syndrome
exact
intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease
related
mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease
related
microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease
exact
microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease
related