Phenotypes associated with the disease X-linked cerebral adrenoleukodystrophy (ORPHA:139396):
- Generalized hyperreflexia (HP:0007034). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:139396)
- Myelopathy (HP:0002196): Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:139396)
- Diffuse demyelination of the cerebral white matter (HP:0007162): A diffuse loss of myelin from nerve fibers in the central nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:139396)
- CNS demyelination (HP:0007305): A loss of myelin from nerve fibers in the central nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:139396)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:139396)
- Very long chain fatty acid accumulation (HP:0008167). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:139396)
- Primary adrenal insufficiency (HP:0008207): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:139396)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:139396)
- Atypical behavior (HP:0000708): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139396)
- Specific learning disability (HP:0001328): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139396)
- Abnormal spinal cord morphology (HP:0002143): A structural abnormality of the spinal cord (myelon). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139396)
- Global brain atrophy (HP:0002283): Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139396)
- Abnormal periventricular white matter morphology (HP:0002518): A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139396)
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139396)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139396)
- Abnormal circulating fatty acid concentration (HP:0004359): Any deviation from the normal concentration of fatty acid in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139396)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139396)
- Abnormal brainstem white matter morphology (HP:0012501): An anomaly of the white matter of brainstem. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139396)
- Male hypogonadism (HP:0000026): Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Facial myokymia (HP:0000317): Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Oculomotor apraxia (HP:0000657): Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Short attention span (HP:0000736): Reduced attention span characterized by distractibility and impulsivity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Spastic tetraparesis (HP:0001285): Spastic weakness affecting all four limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Dysmetria (HP:0001310): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Lower limb spasticity (HP:0002061): Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Apraxia (HP:0002186): A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Hamstring contractures (HP:0003089). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Astereognosis (HP:0010527): Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Impaired visuospatial constructive cognition (HP:0010794): Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Ankle clonus (HP:0011448): Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Visual agnosia (HP:0030222): The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Hoffmann sign (HP:0031993): A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Nasogastric tube feeding (HP:0040288): The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Limb myoclonus (HP:0045084). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139396)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:139396)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:139396)
- Vegetative state (HP:0031358): The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:139396)