Question: What is (are) D-2-alpha hydroxyglutaric aciduria ?
Answer: D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes (mutations) in the D2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.
Source: GARD

Question: What are the symptoms of D-2-alpha hydroxyglutaric aciduria ?
Answer: What are the signs and symptoms of D-2-alpha hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for D-2-alpha hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic regurgitation - Apnea - Autosomal recessive inheritance - Cardiomyopathy - D-2-hydroxyglutaric aciduria - Delayed CNS myelination - Dilation of lateral ventricles - Episodic vomiting - Frontal bossing - Glutaric aciduria - Infantile encephalopathy - Inspiratory stridor - Intellectual disability - Macrocephaly - Multifocal cerebral white matter abnormalities - Muscle weakness - Muscular hypotonia - Prominent forehead - Seizures - Subependymal cysts - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD