Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

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Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability associated with hypertonia spasticity clonus and seizures with brain imaging revealing severe cerebral and cerebellar atrophy and poor myelination.

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 June 2024

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Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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