Traits

Traits linked to DAG1

dystroglycan 1

The Human Phenotype Ontology links 91 traits to DAG1, 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 gait	Always
Absent speech development	Always
Cerebellar vermis hypoplasia	Always
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
More grooves in brain	Always
Underdevelopment of part of brain called corpus callosum	Always
Unsteady walk	Always
Ventriculomegaly	Always
Abnormal cerebellar vermis morphology	Very often (80–99%)
Abnormal cortical gyration	Very often (80–99%)
Abnormality of neuronal migration	Very often (80–99%)
Absent reflexes	Very often (80–99%)
Decreased reflex response	Very often (80–99%)
Fewer and broader ridges in brain	Very often (80–99%)
Fewer or absent grooves in brain	Very often (80–99%)
Small cerebellum	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Abnormal pons morphology	Often (30–79%)
Abnormal shape of brainstem	Often (30–79%)
Absent septum pellucidum	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Agyria	Often (30–79%)
Cerebellar cyst	Often (30–79%)
Delayed ability to sit	Often (30–79%)
Delayed ability to walk	Often (30–79%)
EEG with focal spike waves	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Leukodystrophy	Often (30–79%)
Motor delay	Often (30–79%)
Severe global developmental delay	Often (30–79%)
Waddling gait	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Poor speech	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Difficulty walking up stairs	Always
Excessive inward curvature of lower spine	Always
Generalized decreased muscle tone	Always
Hypoglycosylation of alpha-dystroglycan	Always
Increased variability in muscle fiber diameter	Always
Poor head control	Always
Absent/small skeletal muscles	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Muscle degeneration	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%)
Decreased muscle tone in infant	Often (30–79%)
Gowers sign	Sometimes (5–29%)
Abnormal deposits of calcium in the brain	Not recorded
Muscle tissue disease	Not recorded

Abnormality of the eye

Trait	How often it is seen
Breakdown of light-sensitive cells in back of eye	Always
Chorioretinal dysplasia	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Optic nerve issue	Very often (80–99%)
Retinal detachment	Very often (80–99%)
Retinal dysplasia	Very often (80–99%)
Abnormally small eyeball	Often (30–79%)
Absence of eyeballs	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Corneal opacity	Often (30–79%)
Enlarged eyeball	Often (30–79%)
Glaucoma	Often (30–79%)
Severe near sightedness	Often (30–79%)
Cat eye	Sometimes (5–29%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
Dandy-Walker malformation	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Bifid uvula	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Submucous cleft hard palate	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Ankle flexion contracture	Always
Limb-girdle muscle weakness	Always
Limb-girdle muscular dystrophy	Very often (80–99%)
Metatarsus valgus	Very often (80–99%)
Increased size of calf muscles	Often (30–79%)
Calf muscle pseudohypertrophy	Sometimes (5–29%)

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 creatine kinase after exercise	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Underdeveloped penis	Often (30–79%)
Undescended testes	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	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 DAG1 and how often each is seen. Find out more at hpo.jax.org.

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