Disease #03753 (MAHCJ (aciduria, methylmalonic, and homocystinuria, cblJ type), OMIM:614857)

Official abbreviation MAHCJ
Name aciduria, methylmalonic, and homocystinuria, cblJ type
OMIM ID 614857
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 ABCD4
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Individuals

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00380801 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - MAHCJ DD; hypotonia; respiratory distress; aciduria (Neurological) - ABCD4 2 1 LOVD
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