CTCF-related neurodevelopmental disorder
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
MRD21
exact
intellectual development disorder, autosomal dominant 21
exact
intellectual disability, autosomal dominant 21
exact
intellectual disability, autosomal dominant type 21
exact
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
exact
mental retardation, autosomal dominant 21
exact
mental retardation, autosomal dominant type 21
exact