Traits

Traits linked to ALG13

ALG13 UDP-N-acetylglucosaminyltransferase subunit

The Human Phenotype Ontology links 49 traits to ALG13, 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 pyramidal sign	Always
Abnormality of extrapyramidal motor function	Always
Degeneration of cerebrum	Always
Delayed CNS myelination	Always
Difficulty sleeping	Always
Epilepsy	Always
Global developmental delay	Always
Hypsarrhythmia	Always
Infantile spasms	Always
Intellectual disability, severe	Always
Self-mutilation	Always
Too much cerebrospinal fluid in the brain	Always
Myoclonic seizure	Often (30–79%)
Sudden loss of muscle tone	Often (30–79%)
Tonic seizure	Often (30–79%)
Abnormal lateral ventricle morphology	Sometimes (5–29%)
Abnormal shape of brain	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Clumsiness	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Generalized brain degeneration	Sometimes (5–29%)
Poor eye contact	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Big calvaria	Always
Coarse facial features	Always
Small retruded chin	Always
Long philtrum	Often (30–79%)
Nasal tip, upturned	Sometimes (5–29%)
Short chin	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flexed joint that cannot be straightened	Always
Low muscle tone	Always
Scoliosis	Always
Generalized decreased muscle tone	Often (30–79%)
Poor head control	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Horizontal nystagmus	Always
Optic atrophy	Always
Wide-set eyes	Always
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding tendency	Always
Prolonged partial thromboplastin time	Always

Abnormality of limbs

Trait	How often it is seen
Small hand	Always
Inward turned thumb	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Feeding difficulties	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Always

Growth abnormality

Trait	How often it is seen
Decreased body weight	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Type I transferrin isoform profile	Always

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 ALG13 and how often each is seen. Find out more at hpo.jax.org.

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