Traits

Traits linked to OGDH

oxoglutarate dehydrogenase

The Human Phenotype Ontology links 26 traits to OGDH, 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
Dystonia	Alati
Ataxia	Väga sageli (80–99%)
Global developmental delay	Väga sageli (80–99%)
Abnormality of movement	Sageli (30–79%)
Delayed motor skills	Sageli (30–79%)
Delayed speech and language development	Sageli (30–79%)
Falls	Sageli (30–79%)
Grand mal seizures	Sageli (30–79%)
Inability to coordinate movements when walking	Sageli (30–79%)
Lack of coordination of movement	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Too much cerebrospinal fluid in the brain	Sageli (30–79%)
Unsteady walk	Sageli (30–79%)
Ventriculomegaly	Sageli (30–79%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Low muscle tone	Alati
Muscle degeneration	Väga sageli (80–99%)
Spasticity and rigidity of muscles	Väga sageli (80–99%)
Diffuse skeletal muscle wasting	Sageli (30–79%)
Rigidity	Sageli (30–79%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Higher than normal levels of lactate in blood	Alati
Abnormal urine alpha-ketoglutarate concentration	Väga sageli (80–99%)
Abnormality of Krebs cycle metabolism	Väga sageli (80–99%)
Congenital lactic acidosis	Pole registreeritud
Metabolic acidosis	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Abnormality of the salivary glands	Sageli (30–79%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Short stature	Väga sageli (80–99%)

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

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test