Rare diseases · Sign or symptom

Aplasia/Hypoplasia involving the skeletal musculature

Absent/small skeletal muscles

HP:0001460

What it means

Absence or underdevelopment of the musculature.

Rare diseases that can present with this5

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

Also called: Absent/underdeveloped skeletal muscles

Aplasia/Hypoplasia involving the skeletal…

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This 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.