Disease #00811 (SMALED1 (atrophy, muscular, spinal, lower extremity, autosomal dominant- Spinal muscular atrophy, lower extremity-predominant, type 1 (SMALED1)), OMIM:158600)

Official abbreviation SMALED1
Name atrophy, muscular, spinal, lower extremity, autosomal dominant- Spinal muscular atrophy, lower extremity-predominant, type 1 (SMALED1)
OMIM ID 158600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene DYNC1H1
Associated tissues -
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Individuals

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00402727 192027 - - M no Germany - - 0 - - SMALED1 Myopathy, Exercise intolerance, Myopathic facies, Pectoralis amyotrophy, Shoulder girdle muscle weakness, Upper limb muscle weakness, Muscular dystrophy DYNC1H1 DYNC1H1 1 1 Andreas Laner
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