Rare diseases · Sign or symptom
Abnormality of the musculature
Muscular abnormality
HP:0003011
What it means
Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
Rare diseases that can present with this24
Very common80–99%
12- Congenital contractural arachnodactyly
- Congenital ichthyosis-microcephalus-tetraplegia syndrome
- Desmoid tumor
- Early-onset generalized limb-onset dystonia
- Hereditary leiomyomatosis and renal cell cancer
- Infantile myofibromatosis
- Infantile systemic hyalinosis
- Myalgia-eosinophilia syndrome associated with tryptophan
- Primary orthostatic tremor
- Radioulnar synostosis-developmental delay-hypotonia syndrome
- Stormorken-Sjaastad-Langslet syndrome
- Trismus-pseudocamptodactyly syndrome
Common30–79%
6Sometimes5–29%
5The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.