Phenotypes associated with the disease combined oxidative phosphorylation deficiency 60 (OMIM:621195, an entry in Online Mendelian Inheritance in Man):
- Premature ovarian insufficiency (HP:0008209, a Human Phenotype Ontology term): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: PCS. Frequency: 5/6. (PMID:40043708)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 2/2. (PMID:40043708)
- Moderate intellectual disability (HP:0002342, a Human Phenotype Ontology term): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: PCS. Frequency: 1/2. (PMID:40043708)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 0/2. (PMID:40043708)
- Tubulointerstitial nephritis (HP:0001970, a Human Phenotype Ontology term): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Collectionism (HP:0030212, a Human Phenotype Ontology term): Excessive or pathological tendency to save and collect possessions. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 2/3. (PMID:40043708)
- Stage 3 chronic kidney disease (HP:0012625, a Human Phenotype Ontology term): A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/4. (PMID:40043708)
- Hyperechogenic kidneys (HP:0004719, a Human Phenotype Ontology term): An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Specific learning disability (HP:0001328, a Human Phenotype Ontology term): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: PCS. Frequency: 9/9. (PMID:40043708)
- Decreased serum estradiol (HP:0008214, a Human Phenotype Ontology term): A reduction below normal concentration of estradiol in the circulation. Evidence: PCS. Frequency: 2/2. (PMID:40043708)
- Rod-cone dystrophy (HP:0000510, a Human Phenotype Ontology term): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: 1/1. (PMID:40043708)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/4. (PMID:40043708)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/6. (PMID:40043708)
- Hypoplasia of the uterus (HP:0000013, a Human Phenotype Ontology term): Underdevelopment of the uterus. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Hyperkalemia (HP:0002153, a Human Phenotype Ontology term): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Elevated circulating luteinizing hormone level (HP:0011969, a Human Phenotype Ontology term): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. Frequency: 2/2. (PMID:40043708)
- Increased circulating lactate concentration (HP:0002151, a Human Phenotype Ontology term): 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: 1/1. (PMID:40043708)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: 2/2. (PMID:40043708)
- Low anterior hairline (HP:0000294, a Human Phenotype Ontology term): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Abnormal emotional state (HP:0100851, a Human Phenotype Ontology term): A disturbance in the experience or expression of emotion, characterized by alterations in valence, intensity, frequency, or duration. It may also involve emotional responses that are mismatched, exaggerated, or incongruent relative to internal expectations or external contextual stimuli, such as experiencing negative affect in response to neutral or positive events. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 6/7. (PMID:40043708)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:40043708)
- Tremor (HP:0001337, a Human Phenotype Ontology term): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Hypertonia (HP:0001276, a Human Phenotype Ontology term): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/4. (PMID:40043708)
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 1/4. (PMID:40043708)
- Pigmentary retinopathy (HP:0000580, a Human Phenotype Ontology term): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: PCS. Frequency: 1/4. (PMID:40043708)
- Aplasia of the vagina (HP:0003250, a Human Phenotype Ontology term): Aplasia of the vagina. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Craniofacial dystonia (HP:0012179, a Human Phenotype Ontology term): A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Hallucinations (HP:0000738, a Human Phenotype Ontology term): Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Hypergonadotropic hypogonadism (HP:0000815, a Human Phenotype Ontology term): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: PCS. Frequency: 1/2. (PMID:40043708)
- Elevated circulating follicle stimulating hormone level (HP:0008232, a Human Phenotype Ontology term): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 2/2. (PMID:40043708)
- Hypoglycemia (HP:0001943, a Human Phenotype Ontology term): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 1/2. (PMID:40043708)
- Aspiration (HP:0002835, a Human Phenotype Ontology term): Inspiration of a foreign object into the airway. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Fever (HP:0001945, a Human Phenotype Ontology term): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Posterior subcapsular cataract (HP:0007787, a Human Phenotype Ontology term): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Mental deterioration (HP:0001268, a Human Phenotype Ontology term): Loss of previously present mental abilities, generally in adults. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Lactic acidosis (HP:0003128, a Human Phenotype Ontology term): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Prominent metopic ridge (HP:0005487, a Human Phenotype Ontology term): Vertical bony ridge positioned in the midline of the forehead. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Aplasia of the uterus (HP:0000151, a Human Phenotype Ontology term): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Pneumonia (HP:0002090, a Human Phenotype Ontology term): Inflammation of any part of the lung parenchyma. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Psychosis (HP:0000709, a Human Phenotype Ontology term): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Atypical behavior (HP:0000708, a Human Phenotype Ontology term): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Aplasia of the ovary (HP:0010463, a Human Phenotype Ontology term): Aplasia, that is failure to develop, of the ovary. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Small for gestational age (HP:0001518, a Human Phenotype Ontology term): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Abnormal facial shape (HP:0001999, a Human Phenotype Ontology term): An abnormal morphology (form) of the face or its components. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Hypothyroidism (HP:0000821, a Human Phenotype Ontology term): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Plagiocephaly (HP:0001357, a Human Phenotype Ontology term): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Obesity (HP:0001513, a Human Phenotype Ontology term): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 1/1. (PMID:40043708)
- Primary amenorrhea (HP:0000786, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 0/1. (PMID:40043708)