Traits

Traits linked to MIPEP

mitochondrial intermediate peptidase

The Human Phenotype Ontology links 22 traits to MIPEP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Bulbous nose	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased blood alanine	Always
Increased intramyocellular lipid droplets	Always
Increased lactate in body	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Increased variability in muscle fiber diameter	Often (30–79%)
Spasticity and rigidity of muscles	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Always
Left ventricular noncompaction	Always

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Deeply set eye	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Epilepsy	Often (30–79%)

Abnormality of the digestive system

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

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

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 MIPEP and how often each is seen. Find out more at hpo.jax.org.

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