Traits

Traits linked to MTMR14

myotubularin related protein 14

The Human Phenotype Ontology links 50 traits to MTMR14, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: myotonic discharges	Always
EMG: positive sharp waves	Always
Generalized decreased muscle tone	Always
Wasting of muscles near the body	Always
Weakness of outermost muscles	Always
Centrally nucleated skeletal muscle fibers	Very often (80–99%)
EMG: myopathic abnormalities	Often (30–79%)
Excessive inward curvature of lower spine	Often (30–79%)
Neck muscle weakness	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Thin ribs	Often (30–79%)
Type 1 muscle fiber predominance	Often (30–79%)
Decreased lung function due to weak breathing muscles	Sometimes (5–29%)
Flexed joint that cannot be straightened	Not recorded
Prominent swayback	Not recorded
Tired easily	Not recorded

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Always
Proximal upper limb amyotrophy	Always
Proximal upper limb muscle weakness	Always
Abnormal foot muscles	Often (30–79%)
Proximal lower limb muscle weakness	Often (30–79%)
Shortening of the achilles tendon	Often (30–79%)
Areflexia of lower limbs	Sometimes (5–29%)
Increased size of calf muscles	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Twitching	Always
Absent reflexes	Very often (80–99%)
Abnormal gait	Often (30–79%)
Delayed motor skills	Often (30–79%)
Loss of ability to walk	Sometimes (5–29%)
Peripheral axonal neuropathy	Sometimes (5–29%)
Motor delay	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big head present at birth	Often (30–79%)
Weakness of facial musculature	Often (30–79%)
Bell's palsy	Not recorded
Sleepy facial expression	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Very often (80–99%)
Weakness of muscles controlling eye movement	Often (30–79%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Mildly elevated creatine kinase	Always
Elevated blood creatine phosphokinase	Often (30–79%)
Malignant hyperthermia	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)
Less than 10 fetal movements in 12 hours	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Collection of dilated blood vessels that forms mass	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Pyloric stenosis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal asphyxia	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Exercise-induced muscle pain	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Birth weight > 90th percentile	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 MTMR14 and how often each is seen. Find out more at hpo.jax.org.

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