Traits

Traits linked to MICU1

mitochondrial calcium uptake 1

The Human Phenotype Ontology links 66 traits to MICU1, 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
Ataxia	Always
Cerebellar dysplasia	Always
Clonus	Always
Clumsiness	Always
Delayed speech and language development	Always
Encephalomalacia	Always
Global developmental delay	Always
Hypoplastic anterior limbs of the internal capsule	Always
Motor delay	Always
Perisylvian polymicrogyria	Always
Repeated seizures without recovery between them	Always
Specific learning disability	Always
Abnormal basal ganglia MRI signal intensity	Often (30–79%)
Abnormal gait	Often (30–79%)
Abnormality of extrapyramidal motor function	Often (30–79%)
Chorea	Often (30–79%)
Dystonia	Often (30–79%)
Epilepsy	Often (30–79%)
Involuntary movements	Often (30–79%)
Orofacial dyskinesia	Often (30–79%)
Progressive extrapyramidal movement disorder	Often (30–79%)
Resting tremor	Often (30–79%)
Tremor	Often (30–79%)
Choreoathetosis	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Peripheral axonal neuropathy	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Proximal neurogenic muscle weakness	Always
Central core regions in muscle fibers	Often (30–79%)
Centrally nucleated skeletal muscle fibers	Often (30–79%)
Difficulty running	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Low muscle tone	Often (30–79%)
Muscle spasm	Often (30–79%)
Progressive extrapyramidal muscular rigidity	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Frequent falls	Sometimes (5–29%)
Gowers sign	Sometimes (5–29%)
Tired easily	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Elevated blood lysine	Always
Extremely elevated creatine kinase	Always
High blood valine concentration	Always
High liver enzymes	Always
Increased CSF protein concentration	Always
Mildly elevated creatine kinase	Sometimes (5–29%)
Insulin resistant diabetes	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Always
Narrow face	Always
Nasal tip, upturned	Always
Abnormally small head	Often (30–79%)
Short neck	Sometimes (5–29%)
Tented mouth	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Lazy eye	Always
Wide-set eyes	Always
Drooping upper eyelid	Sometimes (5–29%)
Eye muscle paralysis	Sometimes (5–29%)
Optic atrophy	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%)
Increased spleen size	Sometimes (5–29%)
Disease of the heart muscle	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated white blood count	Always

Abnormality of limbs

Trait	How often it is seen
Increased size of calf muscles	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Not recorded

Abnormality of the integument

Trait	How often it is seen
Soft, doughy skin	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)

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 MICU1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test