Disease #01882 (Krabbe (Krabbe disease (galactosylceramide beta-galactosidase deficiency)), OMIM:245200)

Official abbreviation Krabbe
Name Krabbe disease (galactosylceramide beta-galactosidase deficiency)
OMIM ID 245200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene GALC
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00092240 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - CORTRD1, Krabbe congenital hypotonia, respiratory/feeding insufficiency, IDD secondary to myopathy, premature adrenarche, skin pigmentation abnormalities; transient glycogen storage on muscle biopsy GALC, H6PD GALC 1 1 Johan den Dunnen
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