Phenotypes associated with the disease mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (OMIM:620358):
- Acute encephalopathy (HP:0006846). Evidence: PCS. Frequency: 1/3. (PMID:34483339)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: PCS. Frequency: 1/3. (PMID:34954817)
- Low plasma citrulline (HP:0003572): A decreased concentration of citrulline in the blood. Evidence: PCS. Frequency: 2/3. (PMID:34483339)
- Paraparesis (HP:0002385): Weakness or partial paralysis in the lower limbs. Evidence: PCS. Frequency: 1/3. (PMID:34954817)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:34954817)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 4/6. (PMID:34483339;PMID:34954817)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 2/3. (PMID:34483339)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 3/3. (PMID:34483339)
- Hyperprolinemia (HP:0008358): The concentration of proline in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:34483339)
- Hyperglutamatemia (HP:0500149): Concentration of glutamate in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 2/3. (PMID:34483339)
- Generalized dystonia (HP:0007325): A type of dystonia that affects all or most of the body. Evidence: PCS. Frequency: 1/3. (PMID:34954817)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 1/3. (PMID:34954817)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/3. (PMID:34483339)
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: PCS. Frequency: 4/6. (PMID:34483339;PMID:34954817)
- Hyperalaninemia (HP:0003348): An increased concentration of alanine in the blood. Evidence: PCS. Frequency: 3/3. (PMID:34483339)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 1/3. (PMID:34954817)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 1/3. (PMID:34954817)
- Hypoargininemia (HP:0005961): The concentration of arginine in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/3. (PMID:34483339)
- Spastic ataxia (HP:0002497). Evidence: PCS. Frequency: 1/3. (PMID:34954817)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 3/3. (PMID:34483339)
- Hyperglycinemia (HP:0002154): An elevated concentration of glycine in the blood. Evidence: PCS. Frequency: 1/3. (PMID:34483339)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 3/6. (PMID:34483339;PMID:34954817)
- Increased circulating lactate concentration (HP:0002151): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: PCS. Frequency: 1/3. (PMID:34954817)
- Spastic tetraparesis (HP:0001285): Spastic weakness affecting all four limbs. Evidence: PCS. Frequency: 1/3. (PMID:34954817)
- Cerebral palsy (HP:0100021): Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. Evidence: PCS. Frequency: 1/3. (PMID:34954817)
- Oroticaciduria (HP:0003218): An increased concentration of orotic acid in the urine. Evidence: PCS. Frequency: 2/2. (PMID:34483339)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:34483339)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 2/3. (PMID:34483339)