Traits

Traits linked to MTM1

myotubularin 1

The Human Phenotype Ontology links 62 traits to MTM1, 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
Low muscle tone, in neonatal onset	Întotdeauna
Generalized decreased muscle tone	Foarte des (80–99%)
Type 1 fibers relatively smaller than type 2 fibers	Foarte des (80–99%)
Centrally nucleated skeletal muscle fibers	Des (30–79%)
Fatigable weakness of bulbar muscles	Des (30–79%)
Fatigable weakness of swallowing muscles	Des (30–79%)
Necklace skeletal muscle fibers	Des (30–79%)
Severely decreased muscle tone	Des (30–79%)
Double-Jointed	Uneori (5–29%)
Thin ribs	Uneori (5–29%)
Diaphragmatic eventration	Neînregistrat
Flexed joint that cannot be straightened	Neînregistrat
Generalized muscle weakness	Neînregistrat
Neck muscle weakness	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Weakness of facial musculature	Des (30–79%)
Abnormal facial shape	Uneori (5–29%)
High palate	Uneori (5–29%)
Long face	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Dandy-Walker malformation	Rar (1–4%)
Bad bite	Neînregistrat
Bell's palsy	Neînregistrat
Big calvaria	Neînregistrat
High forehead	Neînregistrat
Narrow face	Neînregistrat

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Low 1-minute APGAR score	Foarte des (80–99%)
Low APGAR score	Foarte des (80–99%)
Caesarean section	Des (30–79%)
High levels of amniotic fluid	Des (30–79%)
Less than 10 fetal movements in 12 hours	Des (30–79%)
Low 5-minute APGAR score	Des (30–79%)
Premature birth	Des (30–79%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Blind vagina	Des (30–79%)
Cleft of scrotum	Des (30–79%)
Glanular hypospadias	Des (30–79%)
Penile hypospadias	Des (30–79%)
Penoscrotal hypospadias	Des (30–79%)
Short penis	Des (30–79%)
Undescended testes	Des (30–79%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties in infancy	Des (30–79%)
Poor suck	Des (30–79%)
Feeding difficulties	Uneori (5–29%)
Pyloric stenosis	Neînregistrat
Tube feeding	Neînregistrat

Abnormality of the nervous system

Trait	Cât de frecvent apare
Absent reflexes	Des (30–79%)
Inability to walk	Uneori (5–29%)
Decreased muscle movement	Neînregistrat
Motor delay	Neînregistrat
Too much cerebrospinal fluid in the brain	Neînregistrat

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Neonatal respiratory distress	Foarte des (80–99%)
Respiratory failure requiring assisted ventilation	Foarte des (80–99%)
Breathing difficulties	Des (30–79%)
Respiratory function loss	Des (30–79%)

Abnormality of limbs

Trait	Cât de frecvent apare
Long slender fingers	Des (30–79%)
Slender toe	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Abnormality of the eye	Des (30–79%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Neînregistrat

Abnormality of the immune system

Trait	Cât de frecvent apare
Pneumonia	Des (30–79%)
Recurrent respiratory infections	Des (30–79%)

Growth abnormality

Trait	Cât de frecvent apare
Birth length greater than 97th percentile	Des (30–79%)

Laboratory abnormality

Trait	Cât de frecvent apare
High liver enzymes	Uneori (5–29%)

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 MTM1 and how often each is seen. Find out more at hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu