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Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

MONDO:0044319

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}).

Also known as: intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, IDDFSDA

7 clinical trials for this condition and its sub-types, 0 tagged with Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies itself.

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↑ Congenital nervous system disorder (287) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Monogenic epilepsy (12) ↑ Autosomal recessive syndromic intellectual disability (1)
Including sub-types (7) Tagged with Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (0)
Trials to join now! 4 Not yet finished but already full! 2 Completed 1
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