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neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

Disease Summary
Associated Targets (1)
Tbio

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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
Orphanet:500545: 
UMLS:C4479333: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found