- Progressive encephalopathy (HP:0002448). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:496756)
- Spastic ataxia (HP:0002497). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:496756)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:496756)
- Spinal muscular atrophy (HP:0007269): Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:496756)
- 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:496756)
- 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:496756)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:496756)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:496756)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:496756)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:496756)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:496756)
- EMG: chronic denervation signs (HP:0003444): Evidence of chronic denervation on electromyography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:496756)
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:496756)
- Difficulty standing (HP:0003698). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:496756)
- Foot dorsiflexor weakness (HP:0009027): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:496756)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:496756)
- Spastic tetraparesis (HP:0001285): Spastic weakness affecting all four limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:496756)
- Anarthria (HP:0002425): A defect in the motor ability that enables speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:496756)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:496756)
- Progressive spastic paraparesis (HP:0007199). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:496756)
- Iron accumulation in substantia nigra (HP:0012678): An anomalous build up of iron (Fe) in the substantia nigra. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:496756)
- 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: Very rare (HP:0040284). (ORPHA:496756)
These phenotypes are associated with the disease Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756).
The following phenotypes are NOT associated with this disease:
- Hypoparathyroidism (HP:0000829): A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. Evidence: TAS. (ORPHA:496756)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. (ORPHA:496756)