Rare diseases · Sign or symptom
Decreased muscle mass
HP:0003199
Rare diseases that can present with this27
Very common80–99%
7Common30–79%
10- Fucosidosis
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- Gordon syndrome
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Nail-patella syndrome
- Non-acquired isolated growth hormone deficiency
- Silver-Russell syndrome
- Symptomatic form of HFE-related hemochromatosis
- X-linked intellectual disability, Snyder type
- Xp21deletion syndrome
Sometimes5–29%
10- Christianson syndrome
- Glycogen storage disease due to aldolase A deficiency
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- Mitochondrial neurogastrointestinal encephalomyopathy
- Myopathic Ehlers-Danlos syndrome
- Ossification anomalies-psychomotor developmental delay syndrome
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- Richieri Costa-da Silva syndrome
and 2 more in this range
The 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
Decreased muscle mass
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.