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

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Cerebral visual impairment	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Very often (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Hip dislocation	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Lack of bladder control due to nervous system injury	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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