intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).
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:0100598
autosomal recessive syndromic intellectual disability
is_a
IDDFSDA
related
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
exact
SPAC1952.03