You are using an outdated browser. Please upgrade your browser to improve your experience.
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).
Uniprot Description A neurodevelopmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging reveals delayed myelination and cerebral atrophy.
Mondo Term and Equivalent IDs
MONDO:0044306: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Download Data for neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:617393
Orphanet:500545
UMLS:C4479333
MONDO:0044306
High level summary of knowledge for a disease, including descriptions and datasource references.