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Traits
Traits linked to MOGS
mannosyl-oligosaccharide glucosidase
The Human Phenotype Ontology links 57 traits to MOGS, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| High palate | Always |
| Long eyelashes | Always |
| Prominent back of the head | Always |
| Receding chin | Always |
| Short opening between the eyelids | Always |
| Wide nose | Always |
| Abnormal facial shape | Often (30–79%) |
| Narrow opening between the eyelids | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Demyelinating peripheral neuropathy | Always |
| EEG with burst suppression | Always |
| Epilepsy | Always |
| Absent brainstem auditory responses | Sometimes (5–29%) |
| Dystonia | Sometimes (5–29%) |
| Underdevelopment of part of brain called corpus callosum | Sometimes (5–29%) |
| Degeneration of cerebrum | Not recorded |
| Global developmental delay | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Generalized decreased muscle tone | Always |
| Thoracic scoliosis | Always |
| Decreased muscle tone in infant | Often (30–79%) |
| Bone fracture | Sometimes (5–29%) |
| Low muscle tone | Not recorded |
| Recurrent fractures | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated circulating aspartate aminotransferase concentration | Always |
| Generalized edema | Always |
| Reduced tissue mannosyl-oligosaccharide glucosidase activity | Always |
| Excess fluid in lungs | Sometimes (5–29%) |
| Fluid retention | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Decreased circulating IgA concentration | Always |
| Decreased circulating antibody level | Often (30–79%) |
| Decreased circulating IgM concentration | Often (30–79%) |
| Decreased circulating IgG concentration | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Enlarged heart | Sometimes (5–29%) |
| Enlarged liver and spleen | Sometimes (5–29%) |
| Left ventricular hypertrophy | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Enlarged liver | Always |
| Chronic constipation | Sometimes (5–29%) |
| Nasogastric tube feeding | Sometimes (5–29%) |
| Feeding difficulties in infancy | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Underdeveloped female external genitalia | Always |
| Underdevelopment of external reproductive organs | Often (30–79%) |
| Hydrocele testis | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Excessive hairiness | Often (30–79%) |
| Fair hair | Sometimes (5–29%) |
| Hair loss | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Apnea | Sometimes (5–29%) |
| Breathing difficulties | Sometimes (5–29%) |
| Slow breathing | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Hand clenching | Always |
| Overlapping fingers | Always |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Inappropriate antidiuretic hormone secretion | Sometimes (5–29%) |
| Underactive thyroid | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormality of visual evoked potentials | Sometimes (5–29%) |
| Optic atrophy | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Low platelet count | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| High levels of amniotic fluid | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Sensorineural hearing impairment | 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 MOGS and how often each is seen. Find out more at hpo.jax.org.
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