Dermatoleukodystrophy

Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.



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

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0000962 Hyperkeratosis Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0012639 Abnormality of nervous system morphology Very frequent (99-80%)
HP:0001315 Reduced tendon reflexes Frequent (79-30%)
HP:0001347 Hyperreflexia Frequent (79-30%)


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