Spinal muscular atrophy
Symptom Information:
Symptom ID: | HPO:0007269 | ||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the musculature(HPO:0003011) Abnormality of muscle morphology(HPO:0011805) Skeletal muscle atrophy(HPO:0003202) Spinal muscular atrophy(HPO:0007269) MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Neurological disorders congenital(MedDRA:10029299) Neurological disorders congenital NEC(MedDRA:10029300) Spinal muscular atrophy(HPO:0007269) |
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Database Frequency: | 24 / 7739 | ||||
Resource: |
All diseases associated with this symptom:
Adult-onset proximal spinal muscular atrophy, autosomal dominant | (Orphanet:209335) |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | (Orphanet:363454) |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | (Orphanet:209341) |
Autosomal dominant congenital benign spinal muscular atrophy | (Orphanet:1216) |
Autosomal recessive lower motor neuron disease with childhood onset | (Orphanet:206580) |
Distal hereditary motor neuropathy, Jerash type | (Orphanet:139552) |
Distal spinal muscular atrophy type 3 | (Orphanet:139547) |
Hereditary myoclonus - progressive distal muscular atrophy | (Orphanet:2590) |
Lower motor neuron syndrome with late-adult onset | (Orphanet:276435) |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID | (OMIM:615575) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C | (OMIM:616081) |
Pontocerebellar hypoplasia type 1 | (Orphanet:2254) |
Proximal spinal muscular atrophy | (Orphanet:70) |
Proximal spinal muscular atrophy type 2 | (Orphanet:83418) |
Proximal spinal muscular atrophy type 3 | (Orphanet:83419) |
Proximal spinal muscular atrophy type 4 | (Orphanet:83420) |
SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION | (OMIM:271109) |
SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE | (OMIM:182970) |
SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE | (OMIM:271200) |
SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL | (OMIM:271220) |
Spinal muscular atrophy with respiratory distress | (Orphanet:98920) |
X-linked distal arthrogryposis multiplex congenita | (Orphanet:1145) |
X-linked distal spinal muscular atrophy | (Orphanet:139557) |
Young adult-onset distal hereditary motor neuropathy | (Orphanet:314485) |