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://www.orphadata.org. Data version April 2024
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PYCR2-related microcephaly-progressive leukoencephalopathy?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.