Liigu sisu juurde
Kasuta oma HSA- või FSA-vahendeid

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

TraitKui sageli seda täheldatakse
EMG: myotonic dischargesAlati
EMG: positive sharp wavesAlati
Generalized decreased muscle toneAlati
Wasting of muscles near the bodyAlati
Weakness of outermost musclesAlati
Centrally nucleated skeletal muscle fibersVäga sageli (80–99%)
EMG: myopathic abnormalitiesSageli (30–79%)
Excessive inward curvature of lower spineSageli (30–79%)
Neck muscle weaknessSageli (30–79%)
Proximal neurogenic muscle weaknessSageli (30–79%)
Thin ribsSageli (30–79%)
Type 1 muscle fiber predominanceSageli (30–79%)
Decreased lung function due to weak breathing musclesMõnikord (5–29%)
Flexed joint that cannot be straightenedPole registreeritud
Prominent swaybackPole registreeritud
Tired easilyPole registreeritud

Abnormality of limbs

TraitKui sageli seda täheldatakse
Distal lower limb muscle weaknessAlati
Proximal upper limb amyotrophyAlati
Proximal upper limb muscle weaknessAlati
Abnormal foot musclesSageli (30–79%)
Proximal lower limb muscle weaknessSageli (30–79%)
Shortening of the achilles tendonSageli (30–79%)
Areflexia of lower limbsMõnikord (5–29%)
Increased size of calf musclesMõnikord (5–29%)

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
TwitchingAlati
Absent reflexesVäga sageli (80–99%)
Abnormal gaitSageli (30–79%)
Delayed motor skillsSageli (30–79%)
Loss of ability to walkMõnikord (5–29%)
Peripheral axonal neuropathyMõnikord (5–29%)
Motor delayPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Big head present at birthSageli (30–79%)
Weakness of facial musculatureSageli (30–79%)
Bell's palsyPole registreeritud
Sleepy facial expressionPole registreeritud

Abnormality of the eye

TraitKui sageli seda täheldatakse
Drooping upper eyelidVäga sageli (80–99%)
Weakness of muscles controlling eye movementSageli (30–79%)
Paralysis or weakness of muscles within or surrounding outer part of eyeMõnikord (5–29%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Mildly elevated creatine kinaseAlati
Elevated blood creatine phosphokinaseSageli (30–79%)
Malignant hyperthermiaHarva (1–4%)

Abnormality of prenatal development or birth

TraitKui sageli seda täheldatakse
High levels of amniotic fluidSageli (30–79%)
Less than 10 fetal movements in 12 hoursSageli (30–79%)

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Loss of bladder controlMõnikord (5–29%)
Undescended testesMõnikord (5–29%)

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Collection of dilated blood vessels that forms massMõnikord (5–29%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Pyloric stenosisMõnikord (5–29%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Neonatal asphyxiaMõnikord (5–29%)

Constitutional symptom

TraitKui sageli seda täheldatakse
Exercise-induced muscle painMõnikord (5–29%)

Growth abnormality

TraitKui sageli seda täheldatakse
Birth weight > 90th percentileSageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test