Traits

Traits linked to MACF1

microtubule actin crosslinking factor 1

The Human Phenotype Ontology links 45 traits to MACF1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Dysgenesis of the hippocampus	Alltid
Epilepsy	Alltid
Fewer and broader ridges in brain	Alltid
Fewer or absent grooves in brain	Alltid
Global developmental delay	Alltid
Hypoplastic anterior commissure	Alltid
Intellectual disability, severe	Alltid
Abnormal hippocampus morphology	Svært ofte (80–99 %)
Abnormality of the anterior commissure	Svært ofte (80–99 %)
Absent/small cerebellum	Svært ofte (80–99 %)
Delayed ability to walk	Svært ofte (80–99 %)
Hypoplasia of the pons	Svært ofte (80–99 %)
Neurodevelopmental delay	Svært ofte (80–99 %)
Small brainstem	Svært ofte (80–99 %)
Absent speech development	Ofte (30–79 %)
Cerebellar hemisphere hypoplasia	Ofte (30–79 %)
Cerebellar vermis hypoplasia	Ofte (30–79 %)
Delayed ability to sit	Ofte (30–79 %)
Focal impaired awareness seizure	Ofte (30–79 %)
Grand mal seizures	Ofte (30–79 %)
Involuntary movements	Ofte (30–79 %)
Myoclonic seizure	Ofte (30–79 %)
Thin corpus callosum	Ofte (30–79 %)
Underdevelopment of part of brain called corpus callosum	Ofte (30–79 %)
Enlarged tectum	Noen ganger (5–29 %)
Infantile spasms	Noen ganger (5–29 %)
Repetitive movements	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Noen ganger (5–29 %)
Depressed nasal bridge	Noen ganger (5–29 %)
Eye folds	Noen ganger (5–29 %)
Facial asymmetry	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Cross-eyed	Ofte (30–79 %)
Cerebral visual impairment	Noen ganger (5–29 %)
Optic nerve hypoplasia	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone in trunk	Svært ofte (80–99 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Poor swallowing	Ofte (30–79 %)
Feeding difficulties	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Hip dislocation	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Low-set ears	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Lack of bladder control due to nervous system injury	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Short stature	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 MACF1 and how often each is seen. Find out more at hpo.jax.org.

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