Canavan disease

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Prevalence (%) of clinical parameters based on data from 2 references describing 63 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay nervous 100 % 9568915 2011-12-05
Leukodystrophy nervous 100 % 3354621 2011-12-05
Macrocephaly nervous 92 % 9568915 2011-12-05
Nystagmus nervous 88 % 9568915 2011-12-05
Dysphagia nervous 80 % 9568915 2011-12-05
Seizures nervous 63 % 9568915 2011-12-05
Optic atrophy nervous 58 % 9568915 2011-12-05
Vomiting nervous 47 % 9568915 2011-12-05



List of references:


The clinical course of Canavan disease.
E C Traeger, I Rapin,



Pediatric neurology - Mar 1998



Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
R Matalon, K Michals, D Sebesta, M Deanching, P Gashkoff, J Casanova,



American journal of medical genetics - Feb 1988