Traits

Traits linked to CLPP

caseinolytic mitochondrial matrix peptidase proteolytic subunit

The Human Phenotype Ontology links 10 traits to CLPP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating follicle stimulating hormone level	Always
Elevated circulating luteinizing hormone level	Very often (80–99%)
Hypergonadotropic hypogonadism	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Primary amenorrhea	Often (30–79%)
Small uterus	Often (30–79%)
Streak ovary	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CLPP and how often each is seen. Find out more at hpo.jax.org.

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