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Human Disease and Mouse Model Detail
Human Disease Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant; SMALED1
OMIM ID: 158600
Human Phenotype Ontology associations
Synonyms Kugelberg-Welander Syndrome, Autosomal Dominant; Sma-Led; Spinal Muscular Atrophy; Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant; Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     DYNC1H1* Dync1h1   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory