Disease #02071 (sialuria (sialuria, French type), OMIM:269921)

Official abbreviation sialuria
Name sialuria, French type
OMIM ID 269921
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene GNE
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00056067 - PubMed: Wilcken 1987 - F - Finland - - 0 - - sialuria moderate developmental delay, hepatosplenomegaly, slightly coarse facial features, large tongue, macrocephaly, massive urinary excretion free sialic acid; 7y-mild intellectual impairment (attends regular school), fine-motor difficulty, growth 10th percentile, organomegaly persistent GNE GNE 1 1 Johan den Dunnen
00056068 - PubMed: Krasnewich 1993 - - - Finland - - 0 - - sialuria hepatomegaly, dysmorphic facies, hirsutism, normal growth; 6y-IQ68; GNE GNE 1 1 Johan den Dunnen
00056069 - PubMed: Weiss 1989 - M - Finland - - 0 - - sialuria hepatomegaly, coarse voice, facial features; 5y-growth/development normal; GNE GNE 1 1 Johan den Dunnen
00056070 - - - F - Portugal - >7y6m 0 - - sialuria sialuria GNE GNE 1 1 Johan den Dunnen
00056100 - - patient and carrier mother (raised urine creatinine) M - United States - - 0 - - sialuria sialuria; GNE GNE 1 2 Johan den Dunnen
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