PYCR2-related microcephaly-progressive leukoencephalopathy

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PYCR2-related microcephaly-progressive leukoencephalopathy

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare genetic syndromic intellectual disability disorder characterized by progressive postnatal microcephaly cerebral hypomyelination and severe psychomotor developmental delayed with absent speech as well as axial hypotonia appendicular hypertonia with hyperextensibility of the wrists and ankles hyperreflexia severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing down- or upslanting palpebral fissures malar hypoplasia large malformed ears with overfolded helices upturned bulbous nose long smooth philtrum and thin vermilion borders.

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: // Data version October 2023.

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PYCR2-related microcephaly-progressive leukoencephalopathy?

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