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	Cât de frecvent apare
EMG: myotonic discharges	Întotdeauna
EMG: positive sharp waves	Întotdeauna
Generalized decreased muscle tone	Întotdeauna
Wasting of muscles near the body	Întotdeauna
Weakness of outermost muscles	Întotdeauna
Centrally nucleated skeletal muscle fibers	Foarte des (80–99%)
EMG: myopathic abnormalities	Des (30–79%)
Excessive inward curvature of lower spine	Des (30–79%)
Neck muscle weakness	Des (30–79%)
Proximal neurogenic muscle weakness	Des (30–79%)
Thin ribs	Des (30–79%)
Type 1 muscle fiber predominance	Des (30–79%)
Decreased lung function due to weak breathing muscles	Uneori (5–29%)
Flexed joint that cannot be straightened	Neînregistrat
Prominent swayback	Neînregistrat
Tired easily	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Distal lower limb muscle weakness	Întotdeauna
Proximal upper limb amyotrophy	Întotdeauna
Proximal upper limb muscle weakness	Întotdeauna
Abnormal foot muscles	Des (30–79%)
Proximal lower limb muscle weakness	Des (30–79%)
Shortening of the achilles tendon	Des (30–79%)
Areflexia of lower limbs	Uneori (5–29%)
Increased size of calf muscles	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Twitching	Întotdeauna
Absent reflexes	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Delayed motor skills	Des (30–79%)
Loss of ability to walk	Uneori (5–29%)
Peripheral axonal neuropathy	Uneori (5–29%)
Motor delay	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Big head present at birth	Des (30–79%)
Weakness of facial musculature	Des (30–79%)
Bell's palsy	Neînregistrat
Sleepy facial expression	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Drooping upper eyelid	Foarte des (80–99%)
Weakness of muscles controlling eye movement	Des (30–79%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Mildly elevated creatine kinase	Întotdeauna
Elevated blood creatine phosphokinase	Des (30–79%)
Malignant hyperthermia	Rar (1–4%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)
Less than 10 fetal movements in 12 hours	Des (30–79%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Loss of bladder control	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Collection of dilated blood vessels that forms mass	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Pyloric stenosis	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Neonatal asphyxia	Uneori (5–29%)

Constitutional symptom

Trait	Cât de frecvent apare
Exercise-induced muscle pain	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Birth weight > 90th percentile	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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