PUM1-associated developmental disability-ataxia-seizure syndrome

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PUM1-associated developmental disability-ataxia-seizure syndrome

Synonyms: PADDAS syndrome

A rare genetic syndromic intellectual disability characterized by developmental delay intellectual disability ataxia and more variably seizures and short stature. Behavioral abnormalities may also be observed as well as variable facial and other dysmorphic features (such as broad nasal bridge hypertelorism almond-shaped eyes high-arched palate and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles small corpus callosum or posterior fossa abnormalities.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Clinical Trials

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