X-linked neurodegenerative syndrome, Bertini type

An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0000608 Macular degeneration Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001251 Ataxia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001274 Agenesis of corpus callosum Very frequent (99-80%)
HP:0001290 Generalized hypotonia Very frequent (99-80%)
HP:0001522 Death in infancy Very frequent (99-80%)
HP:0002123 Generalized myoclonic seizures Very frequent (99-80%)
HP:0006538 Recurrent bronchopulmonary infections Very frequent (99-80%)
HP:0200134 Epileptic encephalopathy Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID