- 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 frequent (HP:0040281). (ORPHA:77299)
- Bilateral microphthalmos (HP:0007633): A developmental anomaly characterized by abnormal smallness of both eyes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77299)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77299)
- 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:77299)
- 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:77299)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77299)
- Diffuse cerebral atrophy (HP:0002506): Diffuse unlocalised atrophy affecting the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77299)
- Lateral ventricle dilatation (HP:0006956). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77299)
- 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: Frequent (HP:0040282). (ORPHA:77299)
- Atrophy/Degeneration affecting the brainstem (HP:0007366). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77299)
- Corpus callosum atrophy (HP:0007371): The presence of atrophy (wasting) of the corpus callosum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77299)
- Inappropriate crying (HP:0030215): Uncontrolled episodes of crying occur without any apparent motivating stimuli. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77299)
- Multifocal seizures (HP:0031165): Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77299)
- Generalized myoclonic seizure (HP:0002123): A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:77299)
- Generalized-onset seizure (HP:0002197): A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:77299)
- Cerebellar vermis atrophy (HP:0006855): Wasting (atrophy) of the vermis of cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:77299)
- Abnormal pons morphology (HP:0007361): A structural abnormality of the pons. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:77299)
- Focal hyperkinetic seizure (HP:0011174): A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:77299)
- 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: Occasional (HP:0040283). (ORPHA:77299)
- Tongue thrusting (HP:0100703): Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:77299)
These phenotypes are associated with the disease Microphthalmia-brain atrophy syndrome (ORPHA:77299).