autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
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
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
SPAC17G8.13c