Phenotypes associated with the disease Familial acute necrotizing encephalopathy (ORPHA:88619):
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:88619)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:88619)
- Acute encephalopathy (HP:0006846). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:88619)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- 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: Frequent (HP:0040282). (ORPHA:88619)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- 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: Frequent (HP:0040282). (ORPHA:88619)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Rigidity (HP:0002063): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Gliosis (HP:0002171): Gliosis is the focal proliferation of glial cells in the central nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Cerebral edema (HP:0002181): Abnormal accumulation of fluid in the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Abnormal brainstem morphology (HP:0002363): An anomaly of the brainstem. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Spastic tetraplegia (HP:0002510): Spastic paralysis affecting all four limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Abnormal pattern of respiration (HP:0002793): An anomaly of the rhythm or depth of breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Abnormal thalamus morphology (HP:0010663): An abnormality of the thalamus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Choroid hemorrhage (HP:0011887): Hemorrhage from the vessels of the choroid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Abnormal brainstem MRI signal intensity (HP:0012747): A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Abnormal visual fixation (HP:0025404): Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)
- Abnormal putamen morphology (HP:0031982): Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88619)