From HPO
Distal upper limb muscle weakness- MedGen UID:
- 461970
- •Concept ID:
- C3150620
- •
- Finding
Reduced strength of the distal musculature of the arms.
Apraxia- MedGen UID:
- 8166
- •Concept ID:
- C0003635
- •
- Mental or Behavioral Dysfunction
A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dystonic disorder- MedGen UID:
- 3940
- •Concept ID:
- C0013421
- •
- Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
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.
Choreoathetosis- MedGen UID:
- 39313
- •Concept ID:
- C0085583
- •
- Disease or Syndrome
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Opisthotonus- MedGen UID:
- 56246
- •Concept ID:
- C0151818
- •
- Sign or Symptom
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Parkinsonian disorder- MedGen UID:
- 66079
- •Concept ID:
- C0242422
- •
- Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
CNS demyelination- MedGen UID:
- 137898
- •Concept ID:
- C0338474
- •
- Disease or Syndrome
A loss of myelin from nerve fibers in the central nervous system.
Partial agenesis of the corpus callosum- MedGen UID:
- 98127
- •Concept ID:
- C0431368
- •
- Congenital Abnormality
A partial failure of the development of the corpus callosum.
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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.
Inability to walk- MedGen UID:
- 107860
- •Concept ID:
- C0560046
- •
- Finding
Incapability to ambulate.
Spastic tetraparesis- MedGen UID:
- 658719
- •Concept ID:
- C0575059
- •
- Disease or Syndrome
Spastic weakness affecting all four limbs.
Lower limb hyperreflexia- MedGen UID:
- 322973
- •Concept ID:
- C1836696
- •
- Finding
Hyperreflexia in upper limbs- MedGen UID:
- 375112
- •Concept ID:
- C1843175
- •
- Finding
Generalized dystonia- MedGen UID:
- 341342
- •Concept ID:
- C1848954
- •
- Finding
A type of dystonia that affects all or most of the body.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Delayed CNS myelination- MedGen UID:
- 867393
- •Concept ID:
- C4021758
- •
- Anatomical Abnormality
Delayed myelination in the central nervous system.
Thin corpus callosum- MedGen UID:
- 1785336
- •Concept ID:
- C5441562
- •
- Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Axial hypotonia- MedGen UID:
- 342959
- •Concept ID:
- C1853743
- •
- Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Distal upper limb amyotrophy- MedGen UID:
- 867223
- •Concept ID:
- C4021581
- •
- Disease or Syndrome
Muscular atrophy of distal arm muscles.
Slow saccadic eye movements- MedGen UID:
- 232942
- •Concept ID:
- C1321329
- •
- Finding
An abnormally slow velocity of the saccadic eye movements.
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system