autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.
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:0015338
syndromic craniosynostosis
is_a
MONDO:0100547
cardiogenetic disease
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
Arboleda-Tham syndrome
exact
KAT6A Syndrome
exact
MRD32
exact
autosomal dominant intellectual disability 32
exact
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
exact
intellectual disability, autosomal dominant 32
related
intellectual disability, autosomal dominant type 32
exact
mental retardation, autosomal dominant 32
related
mental retardation, autosomal dominant type 32
exact
SPAC17G8.13c