Disease #05592 (LSMFLAD (myopathy, lipid storage, due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD)), OMIM:255100)

Official abbreviation LSMFLAD
Name myopathy, lipid storage, due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD)
OMIM ID 255100
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 FLAD1
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00230572 patient PubMed: Puusepp 2019, Journal: Puusepp 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Estonia - >01y03m 0 - - LSMFLAD - - FLAD1 2 1 Sander Pajusalu
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