Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
MONDO:0017811A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene.
Also known as: 5q31.3 microdeletion syndrome, Del(5)(q31.3), monosomy 5q31.3
6 clinical trials for this condition and its sub-types.
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Disease
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Hereditary disease
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Syndromic disease
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Human disease
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Chromosomal disorder
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Developmental defect during embryogenesis
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Disease of genetic or genomic mechanism
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Multiple congenital anomalies/dysmorphic syndrome
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Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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Autosomal anomaly
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