Traits

Traits linked to LARGE1

LARGE xylosyl- and glucuronyltransferase 1

The Human Phenotype Ontology links 157 traits to LARGE1, 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
Abnormal periventricular white matter morphology	Always
Abnormality of neuronal migration	Always
Absent reflexes	Always
Absent speech development	Always
Agyria	Always
Aplasia of the inferior half of the cerebellar vermis	Always
Babinski sign	Always
Delayed ability to sit	Always
Delayed ability to walk	Always
Epilepsy	Always
Fewer and broader ridges in brain	Always
Global developmental delay	Always
Hand mirror movements	Always
IQ less than 20	Always
Overactive lower leg reflex	Always
Small brainstem	Always
Small cerebellum	Always
Type II lissencephaly	Always
Abnormal cerebellar vermis morphology	Very often (80–99%)
Abnormal cortical gyration	Very often (80–99%)
Abnormal gait	Very often (80–99%)
Abnormal speech pattern	Very often (80–99%)
Cognitive impairment	Very often (80–99%)
Decreased reflex response	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Fewer or absent grooves in brain	Very often (80–99%)
Intellectual disability	Very often (80–99%)
More grooves in brain	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Ventriculomegaly	Very often (80–99%)
Abnormality of movement	Often (30–79%)
Absent septum pellucidum	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Dilated third ventricle	Often (30–79%)
Kinked brainstem	Often (30–79%)
Lateral ventricle dilatation	Often (30–79%)
Motor delay	Often (30–79%)
Poor gross motor coordination	Often (30–79%)
Abnormal pons morphology	Sometimes (5–29%)
Abnormality of the nervous system	Sometimes (5–29%)
Absent/small cerebellum	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Diminished deep tendon reflex	Sometimes (5–29%)
Holoprosencephaly	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Meningocele	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Poor speech	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Cerebellar dysplasia	Not recorded
Excessive daytime sleepiness	Not recorded
Hypoplasia of the pons	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Always
Corneal opacity	Always
Decreased light- and dark-adapted electroretinogram amplitude	Always
Horizontal nystagmus	Always
Retinal dysplasia	Always
Breakdown of light-sensitive cells in back of eye	Very often (80–99%)
Chorioretinal dysplasia	Very often (80–99%)
Close sighted	Very often (80–99%)
Cross-eyed	Very often (80–99%)
Glaucoma	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Optic nerve issue	Very often (80–99%)
Retinal detachment	Very often (80–99%)
Visual impairment	Very often (80–99%)
Absence of eyeballs	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Clouding of the lens of the eye at birth	Often (30–79%)
Pigmentary retinopathy	Often (30–79%)
Posterior synechiae of the anterior chamber	Often (30–79%)
Abnormality of the eye	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)
Blindness	Not recorded
Enlarged cornea	Not recorded
Enlarged eyeball	Not recorded
Notched pupil	Not recorded
Optic nerve hypoplasia	Not recorded
Peters anomaly	Not recorded
Retinal atrophy	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Increased skeletal muscle cells	Always
Low muscle tone	Always
Low muscle tone, in neonatal onset	Always
Proximal neurogenic muscle weakness	Always
Absent/small skeletal muscles	Very often (80–99%)
Decreased muscle tone in infant	Very often (80–99%)
EMG abnormality	Very often (80–99%)
Hypoglycosylation of alpha-dystroglycan	Very often (80–99%)
Muscle degeneration	Very often (80–99%)
Muscle tissue disease	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Muscular dystrophy	Very often (80–99%)
Reduced muscle fiber alpha dystroglycan	Very often (80–99%)
Fatigable weakness of skeletal muscles	Often (30–79%)
Increased endomysial connective tissue	Often (30–79%)
Multiple joint contractures	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Abnormality of connective tissue	Sometimes (5–29%)
Axial muscle weakness	Sometimes (5–29%)
Limited neck movement	Sometimes (5–29%)
Neuropathic spinal arthropathy	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Congenital contracture	Not recorded
EMG: myopathic abnormalities	Not recorded
Flexed joint that cannot be straightened	Not recorded
Severely decreased muscle tone	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Dandy-Walker malformation	Always
Expressionless face	Always
Meningoencephalocele	Always
Abnormally small head	Often (30–79%)
Big calvaria	Often (30–79%)
Little lower jaw	Often (30–79%)
Sloping forehead	Often (30–79%)
Abnormality of the tongue muscle	Sometimes (5–29%)
Bell's palsy	Sometimes (5–29%)
Bifid uvula	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Submucous cleft hard palate	Sometimes (5–29%)
Brain tissue sticks out through back of skull	Not recorded
Cleft upper lip	Not recorded
Posterior fossa cyst	Not recorded

Abnormality of limbs

Trait	How often it is seen
Elbow flexion contracture	Always
Increased size of calf muscles	Always
Shortening of the achilles tendon	Always
Metatarsus valgus	Very often (80–99%)
Limb-girdle muscle weakness	Often (30–79%)
Pes valgus	Often (30–79%)
Hip dislocation	Sometimes (5–29%)
Joint contracture of the hand	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Abnormal circulating aldolase concentration	Very often (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Very often (80–99%)
Abnormal levels of creatine kinase in blood	Very often (80–99%)
Elevated circulating aspartate aminotransferase concentration	Often (30–79%)
Increased circulating lactate dehydrogenase concentration	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Ears rotated toward back of head	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)
Absent ear canal	Not recorded
Small ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always
Underdeveloped penis	Often (30–79%)
Short penis	Sometimes (5–29%)
Renal dysplasia	Not recorded
Small male external genitalia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Always
Feeding difficulties	Often (30–79%)
Absent anus	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Sometimes (5–29%)
Respiratory function loss	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Not recorded

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 LARGE1 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