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| Term | autosomal dominant distal hereditary motor neuronopathy 1 | ID (Ontology) | DOID:0111200 (Human Disease) |
| Definition | An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. | ||
| Also Known As | "autosomal dominant distal juvenile spinal muscular atrophy type 1" ; "dHMN1" ; "distal hereditary motor neuronopathy type 1" (for all, see Synonyms field below) | ||
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autosomal dominant disease__ spinal muscular atrophy_____| autosomal dominant distal hereditary motor neuronopathy |__autosomal dominant distal hereditary motor neuronopathy 1 |
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| Is a | autosomal dominant distal hereditary motor neuronopathy | ||
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MESH:C566675 MIM:182960 NCI:C132826 ORDO:139518 SNOMEDCT_US_2023_03_01:770630005 UMLS_CUI:C1866784 |
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