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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

TraitHvor ofte det ses
Abnormal pyramidal signAltid
Abnormality of extrapyramidal motor functionAltid
Degeneration of cerebrumAltid
Delayed CNS myelinationAltid
Difficulty sleepingAltid
EpilepsyAltid
Global developmental delayAltid
HypsarrhythmiaAltid
Infantile spasmsAltid
Intellectual disability, severeAltid
Self-mutilationAltid
Too much cerebrospinal fluid in the brainAltid
Myoclonic seizureOfte (30–79 %)
Sudden loss of muscle toneOfte (30–79 %)
Tonic seizureOfte (30–79 %)
Abnormal lateral ventricle morphologyNogle gange (5–29 %)
Abnormal shape of brainNogle gange (5–29 %)
AutismNogle gange (5–29 %)
ClumsinessNogle gange (5–29 %)
Cognitive impairmentNogle gange (5–29 %)
Delayed speech and language developmentNogle gange (5–29 %)
Generalized brain degenerationNogle gange (5–29 %)
Poor eye contactNogle gange (5–29 %)

Abnormality of head or neck

TraitHvor ofte det ses
Abnormally small headAltid
Big calvariaAltid
Coarse facial featuresAltid
Small retruded chinAltid
Long philtrumOfte (30–79 %)
Nasal tip, upturnedNogle gange (5–29 %)
Short chinNogle gange (5–29 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Flexed joint that cannot be straightenedAltid
Low muscle toneAltid
ScoliosisAltid
Generalized decreased muscle toneOfte (30–79 %)
Poor head controlNogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Horizontal nystagmusAltid
Optic atrophyAltid
Wide-set eyesAltid
Involuntary, rapid, rhythmic eye movementsNogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

TraitHvor ofte det ses
Bleeding tendencyAltid
Prolonged partial thromboplastin timeAltid

Abnormality of limbs

TraitHvor ofte det ses
Small handAltid
Inward turned thumbNogle gange (5–29 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Enlarged liverAltid
Feeding difficultiesAltid

Abnormality of the ear

TraitHvor ofte det ses
Low-set earsAltid

Abnormality of the immune system

TraitHvor ofte det ses
Recurrent infectionsAltid

Growth abnormality

TraitHvor ofte det ses
Decreased body weightNogle gange (5–29 %)

Laboratory abnormality

TraitHvor ofte det ses
Type I transferrin isoform profileAltid

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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