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	Hvor ofte det ses
Abnormal gait	Altid
Abnormal periventricular white matter morphology	Altid
Babinski sign	Altid
Delayed ability to walk	Altid
Delayed social development	Altid
Global developmental delay	Altid
Hypoplasia of the pons	Altid
Increased reflexes	Altid
Intellectual disability	Altid
Irritability	Altid
Small cerebellum	Altid
Underdevelopment of part of brain called corpus callosum	Altid
Absent speech development	Ofte (30–79 %)
Clonus	Ofte (30–79 %)
Delayed motor skills	Ofte (30–79 %)
Dystonia	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Impaired vibration sensation at ankles	Ofte (30–79 %)
Ventriculomegaly	Ofte (30–79 %)
Periventricular leukomalacia	Nogle gange (5–29 %)
Decrease in size of the outer layer of the brain due to loss of brain cells	Ikke registreret
Peripheral axonal neuropathy	Ikke registreret

Abnormality of head or neck

Trait	Hvor ofte det ses
Development of small head that was not present at birth	Altid
Abnormally large tongue	Ikke registreret
Decreased facial muscle tone	Ikke registreret
Downward slanting of the opening between the eyelids	Ikke registreret
Midface retrusion	Ikke registreret
Narrow forehead	Ikke registreret
Short upper lip	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Involuntary muscle stiffness, contraction, or spasm	Altid
Scissor gait	Altid
Spasticity and rigidity of muscles	Altid
Muscle degeneration	Ofte (30–79 %)
Low muscle tone in trunk	Nogle gange (5–29 %)
Spastic paraplegia	Ikke registreret

Abnormality of the eye

Trait	Hvor ofte det ses
Visual fixation instability	Meget ofte (80–99 %)
Cerebral visual impairment	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)
Cross-eyed	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Decreased body weight	Ofte (30–79 %)
Short stature	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Poor swallowing	Meget ofte (80–99 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Abnormally shaped ears	Ikke registreret

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 AMPD2 and how often each is seen. Find out more at hpo.jax.org.

Én test. Svar for hele livet.

Fra 449 $Gratis forsendelse · Resultater på 6–8 uger

Bestil min Genome Test