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

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Development of small head that was not present at birth	Alati
Abnormally large tongue	Pole registreeritud
Decreased facial muscle tone	Pole registreeritud
Downward slanting of the opening between the eyelids	Pole registreeritud
Midface retrusion	Pole registreeritud
Narrow forehead	Pole registreeritud
Short upper lip	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Involuntary muscle stiffness, contraction, or spasm	Alati
Scissor gait	Alati
Spasticity and rigidity of muscles	Alati
Muscle degeneration	Sageli (30–79%)
Low muscle tone in trunk	Mõnikord (5–29%)
Spastic paraplegia	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Visual fixation instability	Väga sageli (80–99%)
Cerebral visual impairment	Sageli (30–79%)
Optic atrophy	Sageli (30–79%)
Cross-eyed	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Decreased body weight	Sageli (30–79%)
Short stature	Sageli (30–79%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Poor swallowing	Väga sageli (80–99%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Abnormally shaped ears	Pole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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