Phenotypes associated with the disease Hydranencephaly (ORPHA:2177):
- 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:2177)
- 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: Very frequent (HP:0040281). (ORPHA:2177)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2177)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2177)
- Infantile sensorineural hearing impairment (HP:0008610): A form of sensorineural hearing impairment with infantile onset. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2177)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2177)
- Abnormal corpus striatum morphology (HP:0010994): Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2177)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- 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:2177)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Spastic diplegia (HP:0001264): Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Opisthotonus (HP:0002179): Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Dilatation of the ventricular cavity (HP:0006698): A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Antenatal intracerebral hemorrhage (HP:0007023): Cerebral hemorrhage that occurs before birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Abnormal cerebral artery morphology (HP:0009145): Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Abnormal dura mater morphology (HP:0010652): An abnormality of the Dura mater. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Abnormal fontanelle morphology (HP:0011328): An abnormality of the fontanelle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Thalamic edema (HP:0025040): Swelling within the thalamus due to the accumulation of fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Dysgenesis of the thalamus (HP:0025099): Structural abnormality of the thalamus related to defective development. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Stiff neck (HP:0025258): A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Hypoplastic hippocampus (HP:0025517): Underdevelopment of the hippocampus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Atrophic pituitary gland (HP:0410279): Partial or complete wasting (loss) of the pituitary gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Abnormal internal carotid artery morphology (HP:3000062): An abnormality of an internal carotid artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2177)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2177)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2177)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2177)
- Primary microcephaly (HP:0011451): Head circumference below 2 standard deviations below the mean for age and gender at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2177)