From HPO
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Spasticity- MedGen UID:
- 7753
- •Concept ID:
- C0026838
- •
- Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
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.
Megalencephaly- MedGen UID:
- 65141
- •Concept ID:
- C0221355
- •
- Congenital Abnormality
Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
Abnormal cerebral white matter morphology- MedGen UID:
- 181756
- •Concept ID:
- C0948163
- •
- Pathologic Function
An abnormality of the cerebral white matter.
Cerebral dysmyelination- MedGen UID:
- 343222
- •Concept ID:
- C1854885
- •
- Finding
Defective structure and function of myelin sheaths of the white matter of the brain.
EEG with photoparoxysmal response- MedGen UID:
- 765735
- •Concept ID:
- C3552821
- •
- Finding
EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.
- Abnormality of the nervous system