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Traits
Traits linked to ALG3
ALG3 alpha-1,3- mannosyltransferase
The Human Phenotype Ontology links 76 traits to ALG3, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Epilepsy | Always |
| Global developmental delay | Always |
| Abnormal cerebral morphology | Very often (80–99%) |
| Brain degeneration | Sometimes (5–29%) |
| Dystonia | Sometimes (5–29%) |
| Neural tube defect | Sometimes (5–29%) |
| Cerebral white matter atrophy | Rarely (1–4%) |
| Hypoplasia of the pons | Rarely (1–4%) |
| Subcortical cerebral atrophy | Rarely (1–4%) |
| Underdevelopment of part of brain called corpus callosum | Rarely (1–4%) |
| Degeneration of cerebellum | Not recorded |
| Degeneration of cerebrum | Not recorded |
| Hypsarrhythmia | Not recorded |
| Increased reflexes | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Always |
| Abnormality of the nose | Often (30–79%) |
| Abnormality of the uvula | Rarely (1–4%) |
| Abnormally large tongue | Rarely (1–4%) |
| Dandy-Walker malformation | Rarely (1–4%) |
| High palate | Rarely (1–4%) |
| Bifid uvula | Not recorded |
| Bulbous nose | Not recorded |
| Depressed nasal bridge | Not recorded |
| Eye folds | Not recorded |
| Wide nasal bridge | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Abnormal shape of limb bone | Often (30–79%) |
| Abnormality of limbs | Often (30–79%) |
| Metaphyseal chondrodysplasia | Rarely (1–4%) |
| Clinodactyly of the 5th toe | Not recorded |
| Club feet | Not recorded |
| Curvature of digit | Not recorded |
| Inward turned thumb | Not recorded |
| Joint contracture of the hand | Not recorded |
| Long fingers | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Optic atrophy | Always |
| Abnormality of the eye | Often (30–79%) |
| Clouding of the lens of the eye | Rarely (1–4%) |
| Involuntary, rapid, rhythmic eye movements | Rarely (1–4%) |
| Cat eye | Not recorded |
| Cross-eyed | Not recorded |
| Decreased light- and dark-adapted electroretinogram amplitude | Not recorded |
| Marked vision impairment | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Spastic tetraparesis | Always |
| Low muscle tone | Very often (80–99%) |
| Osteopenia | Often (30–79%) |
| Spasticity and rigidity of muscles | Sometimes (5–29%) |
| Arthrogryposis multiplex congenita | Rarely (1–4%) |
| Inability to make and keep healthy fat tissue | Rarely (1–4%) |
| Flexed joint that cannot be straightened | Not recorded |
| Low muscle tone in trunk | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Abnormality of the gastrointestinal tract | Very often (80–99%) |
| Feeding difficulties | Very often (80–99%) |
| Decreased liver function | Often (30–79%) |
| Diarrhea | Not recorded |
| Villous atrophy | Not recorded |
| Vomiting | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal cardiovascular system morphology | Often (30–79%) |
| Coarctation of the descending aortic arch | Rarely (1–4%) |
| Disease of the heart muscle | Rarely (1–4%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Abnormally shaped ears | Often (30–79%) |
| Hearing impairment | Often (30–79%) |
| Large ears | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Patchy lightened skin | Rarely (1–4%) |
| Atypical nail growth | Not recorded |
| Small nail | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Abnormal circulating enzyme concentration or activity | Always |
| Type I transferrin isoform profile | Always |
| Food intolerance | Not recorded |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Abnormality of the respiratory system | Often (30–79%) |
| Poorly developed lungs | Rarely (1–4%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Abnormality of blood and blood-forming tissues | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Inverted nipples | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Abnormality of the endocrine system | Often (30–79%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormality of the genitourinary system | Often (30–79%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent infections | Very often (80–99%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | 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 ALG3 and how often each is seen. Find out more at hpo.jax.org.
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