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	Hvor ofte den forekommer
Low muscle tone, in neonatal onset	Alltid
Generalized decreased muscle tone	Svært ofte (80–99 %)
Type 1 fibers relatively smaller than type 2 fibers	Svært ofte (80–99 %)
Centrally nucleated skeletal muscle fibers	Ofte (30–79 %)
Fatigable weakness of bulbar muscles	Ofte (30–79 %)
Fatigable weakness of swallowing muscles	Ofte (30–79 %)
Necklace skeletal muscle fibers	Ofte (30–79 %)
Severely decreased muscle tone	Ofte (30–79 %)
Double-Jointed	Noen ganger (5–29 %)
Thin ribs	Noen ganger (5–29 %)
Diaphragmatic eventration	Ikke registrert
Flexed joint that cannot be straightened	Ikke registrert
Generalized muscle weakness	Ikke registrert
Neck muscle weakness	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Weakness of facial musculature	Ofte (30–79 %)
Abnormal facial shape	Noen ganger (5–29 %)
High palate	Noen ganger (5–29 %)
Long face	Noen ganger (5–29 %)
Long, narrow head	Noen ganger (5–29 %)
Receding chin	Noen ganger (5–29 %)
Dandy-Walker malformation	Sjelden (1–4%)
Bad bite	Ikke registrert
Bell's palsy	Ikke registrert
Big calvaria	Ikke registrert
High forehead	Ikke registrert
Narrow face	Ikke registrert

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Low 1-minute APGAR score	Svært ofte (80–99 %)
Low APGAR score	Svært ofte (80–99 %)
Caesarean section	Ofte (30–79 %)
High levels of amniotic fluid	Ofte (30–79 %)
Less than 10 fetal movements in 12 hours	Ofte (30–79 %)
Low 5-minute APGAR score	Ofte (30–79 %)
Premature birth	Ofte (30–79 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Blind vagina	Ofte (30–79 %)
Cleft of scrotum	Ofte (30–79 %)
Glanular hypospadias	Ofte (30–79 %)
Penile hypospadias	Ofte (30–79 %)
Penoscrotal hypospadias	Ofte (30–79 %)
Short penis	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Feeding difficulties in infancy	Ofte (30–79 %)
Poor suck	Ofte (30–79 %)
Feeding difficulties	Noen ganger (5–29 %)
Pyloric stenosis	Ikke registrert
Tube feeding	Ikke registrert

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Absent reflexes	Ofte (30–79 %)
Inability to walk	Noen ganger (5–29 %)
Decreased muscle movement	Ikke registrert
Motor delay	Ikke registrert
Too much cerebrospinal fluid in the brain	Ikke registrert

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Neonatal respiratory distress	Svært ofte (80–99 %)
Respiratory failure requiring assisted ventilation	Svært ofte (80–99 %)
Breathing difficulties	Ofte (30–79 %)
Respiratory function loss	Ofte (30–79 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Long slender fingers	Ofte (30–79 %)
Slender toe	Ikke registrert

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormality of the eye	Ofte (30–79 %)
Paralysis or weakness of muscles within or surrounding outer part of eye	Ikke registrert

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Pneumonia	Ofte (30–79 %)
Recurrent respiratory infections	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Birth length greater than 97th percentile	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
High liver enzymes	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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.

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