Phenotypes associated with the disease neurodegeneration and seizures due to copper transport defect (OMIM:620306):
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- Focal impaired awareness seizure (HP:0002384): Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:35913762)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Seizure (HP:0001250): 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: 1/1. (PMID:36562171)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Enlarged cisterna magna (HP:0002280): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- Cerebral visual impairment (HP:0100704): A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Temperature instability (HP:0005968): Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Axial hypotonia (HP:0008936): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Delayed ability to roll over (HP:0032989): Delayed achievement of the ability to roll front to back and back to front. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Abnormal circulating copper concentration (HP:0010836): Any deviation from the normal concentration of copper cation in the blood circulation. Evidence: PCS. Frequency: 0/2. (PMID:35913762)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- Thickened nuchal skin fold (HP:0000474): A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- 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: 2/2. (PMID:35913762)
- Increased CSF lactate (HP:0002490): Increased concentration of lactate in the cerebrospinal fluid. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Decreased CSF copper concentration (HP:0034823): Concentration of copper in the cerebrospinal fluid (CSF) below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- Persistent head lag (HP:0032988): The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Glanular hypospadias (HP:0000807): A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip. Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- Abnormal circulating ceruloplasmin concentration (HP:0033144): Any deviation from the normal concentration of ceruloplasmin in the blood circulation. Evidence: PCS. Frequency: 0/2. (PMID:35913762)
- Limb hypertonia (HP:0002509). Evidence: PCS. Frequency: 2/2. (PMID:35913762)
- Autosomal recessive inheritance (HP:0000007): 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:35913762)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: PCS. Frequency: 1/1. (PMID:36562171)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: PCS. Frequency: 1/1. (PMID:36562171)