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severe neonatal-onset encephalopathy with microcephaly

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.
Uniprot Description A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements.
Mondo Term and Equivalent IDs
MONDO:0010397:  severe neonatal-onset encephalopathy with microcephaly
MESH:C566878: 
NCIT:C132293: 
Orphanet:209370: 
UMLS:C1968556: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found