From HPO
Lower limb muscle weakness- MedGen UID:
- 324478
- •Concept ID:
- C1836296
- •
- Finding
Weakness of the muscles of the legs.
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.
Leukodystrophy- MedGen UID:
- 6070
- •Concept ID:
- C0023520
- •
- Disease or Syndrome
Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
Babinski sign- MedGen UID:
- 19708
- •Concept ID:
- C0034935
- •
- Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
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.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Polyneuropathy- MedGen UID:
- 57502
- •Concept ID:
- C0152025
- •
- Disease or Syndrome
A generalized disorder of peripheral nerves.
Abnormal pyramidal sign- MedGen UID:
- 68582
- •Concept ID:
- C0234132
- •
- Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Delayed ability to walk- MedGen UID:
- 66034
- •Concept ID:
- C0241726
- •
- Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
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.
Loss of ambulation- MedGen UID:
- 332305
- •Concept ID:
- C1836843
- •
- Finding
Inability to walk in a person who previous had the ability to walk.
Onion bulb formation- MedGen UID:
- 376237
- •Concept ID:
- C1847906
- •
- Finding
Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Decreased motor nerve conduction velocity- MedGen UID:
- 388130
- •Concept ID:
- C1858729
- •
- Finding
A type of decreased nerve conduction velocity that affects the motor neuron.
Abnormal cerebellum morphology- MedGen UID:
- 400925
- •Concept ID:
- C1866129
- •
- Anatomical Abnormality
Any structural abnormality of the cerebellum.
Truncal titubation- MedGen UID:
- 382380
- •Concept ID:
- C2674512
- •
- Finding
Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Delayed somatosensory central conduction time- MedGen UID:
- 867773
- •Concept ID:
- C4022163
- •
- Pathologic Function
An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).
Cerebral white matter atrophy- MedGen UID:
- 868341
- •Concept ID:
- C4022735
- •
- Anatomical Abnormality
The presence of atrophy (wasting) of the cerebral white matter.
Delayed brainstem auditory evoked response conduction time- MedGen UID:
- 870862
- •Concept ID:
- C4025322
- •
- Finding
An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.
CNS hypomyelination- MedGen UID:
- 892446
- •Concept ID:
- C4025616
- •
- Finding
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Intention tremor- MedGen UID:
- 1642960
- •Concept ID:
- C4551520
- •
- Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Axial hypotonia- MedGen UID:
- 342959
- •Concept ID:
- C1853743
- •
- Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Lower limb amyotrophy- MedGen UID:
- 870475
- •Concept ID:
- C4024921
- •
- Finding
Muscular atrophy affecting the lower limb.
Developmental cataract- MedGen UID:
- 3202
- •Concept ID:
- C0009691
- •
- Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system