From HPO
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.
Intellectual disability, severe- MedGen UID:
- 48638
- •Concept ID:
- C0036857
- •
- Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Cerebral atrophy- MedGen UID:
- 116012
- •Concept ID:
- C0235946
- •
- Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Leukoencephalopathy- MedGen UID:
- 78722
- •Concept ID:
- C0270612
- •
- Disease or Syndrome
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Spastic tetraplegia- MedGen UID:
- 98433
- •Concept ID:
- C0426970
- •
- Disease or Syndrome
Spastic paralysis affecting all four limbs.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
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.
Lacunar stroke- MedGen UID:
- 465269
- •Concept ID:
- C3178801
- •
- Disease or Syndrome
A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.
Porencephalic cyst- MedGen UID:
- 906044
- •Concept ID:
- C4082172
- •
- Disease or Syndrome
A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Cerebral calcification- MedGen UID:
- 124360
- •Concept ID:
- C0270685
- •
- Finding
The presence of calcium deposition within the cerebrum.
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system