Traits

Traits linked to AMPD2

adenosine monophosphate deaminase 2

The Human Phenotype Ontology links 43 traits to AMPD2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormal gait	Visada
Abnormal periventricular white matter morphology	Visada
Babinski sign	Visada
Delayed ability to walk	Visada
Delayed social development	Visada
Global developmental delay	Visada
Hypoplasia of the pons	Visada
Increased reflexes	Visada
Intellectual disability	Visada
Irritability	Visada
Small cerebellum	Visada
Underdevelopment of part of brain called corpus callosum	Visada
Absent speech development	Dažnai (30–79%)
Clonus	Dažnai (30–79%)
Delayed motor skills	Dažnai (30–79%)
Dystonia	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Impaired vibration sensation at ankles	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Periventricular leukomalacia	Kartais (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Neužfiksuota
Peripheral axonal neuropathy	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Development of small head that was not present at birth	Visada
Abnormally large tongue	Neužfiksuota
Decreased facial muscle tone	Neužfiksuota
Downward slanting of the opening between the eyelids	Neužfiksuota
Midface retrusion	Neužfiksuota
Narrow forehead	Neužfiksuota
Short upper lip	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Involuntary muscle stiffness, contraction, or spasm	Visada
Scissor gait	Visada
Spasticity and rigidity of muscles	Visada
Muscle degeneration	Dažnai (30–79%)
Low muscle tone in trunk	Kartais (5–29%)
Spastic paraplegia	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Visual fixation instability	Labai dažnai (80–99%)
Cerebral visual impairment	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Cross-eyed	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Decreased body weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Poor swallowing	Labai dažnai (80–99%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Abnormally shaped ears	Neužfiksuota

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to AMPD2 and how often each is seen. Find out more at hpo.jax.org.

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