Total 40 clinical symptoms reported for Pontocerebellar hypoplasia, type 12
| Cerebellar hypoplasia |
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Synonyms:Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum |
Very frequent |
| Cerebellar vermis hypoplasia |
Underdevelopment of the vermis of cerebellum.
Synonyms:Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis |
Very frequent |
| Choreoathetosis |
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Synonyms:Choreoathetoid movements |
Very frequent |
| Feeding difficulties |
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Synonyms:Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding |
Very frequent |
| Generalized myoclonic seizure |
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.
Synonyms:Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures |
Very frequent |
| Hypoplasia of the ventral pons |
Underdevelopment of the ventral portion of the pons.
Synonyms:Underdeveloped ventral pons |
Very frequent |
| Impaired oropharyngeal swallow response |
Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.
|
Very frequent |
| Seizure |
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.
Synonyms:Epileptic seizure; Seizures |
Very frequent |
| Severe global developmental delay |
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Synonyms:Global developmental delay, severe |
Very frequent |
| Sleep disturbance |
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Synonyms:Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping |
Very frequent |