| HPO |
HP:0002444 |
Hypothalamic hamartoma |
"The presence of a hamartoma of the hypothalamus." [HPO:curators] |
Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. |
HP:0009731, HP:0012286 |
| HPO |
HP:0002445 |
Tetraplegia |
"Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord." [HPO:probinson] |
— |
HP:0030182 |
| HPO |
HP:0002446 |
Astrocytosis |
"Proliferation of astrocytes in the area of a lesion of the central nervous system." [HPO:probinson] |
— |
HP:0100707 |
| HPO |
HP:0002448 |
Progressive encephalopathy |
— |
— |
HP:0001298 |
| HPO |
HP:0002450 |
Abnormal motor neuron morphology |
"Any structural anomaly that affects the motor neuron." [] |
— |
HP:0012757 |
| HPO |
HP:0002451 |
Limb dystonia |
"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs." [HPO:probinson] |
— |
HP:0001332 |
| HPO |
HP:0002453 |
Abnormal globus pallidus morphology |
"An abnormality of the globus pallidus." [HPO:probinson] |
The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule. |
HP:0002134 |
| HPO |
HP:0002454 |
Eye of the tiger anomaly of globus pallidus |
"The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance." [HPO:probinson, PMID:11110959, PMID:19881070] |
This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus. |
HP:0002453 |
| HPO |
HP:0002457 |
Abnormal head movements |
— |
— |
HP:0100022 |
| HPO |
HP:0002459 |
obsolete Dysautonomia |
— |
— |
— |
| HPO |
HP:0002460 |
Distal muscle weakness |
"Reduced strength of the musculature of the distal extremities." [HPO:probinson] |
Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. |
HP:0001324 |
| HPO |
HP:0002461 |
Dense calcifications in the cerebellar dentate nucleus |
— |
— |
HP:0007352, HP:0100321 |
| HPO |
HP:0002463 |
Language impairment |
"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations." [ISBN:9780890425558] |
— |
HP:0011446 |
| HPO |
HP:0002464 |
Spastic dysarthria |
"A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality." [HPO:probinson] |
— |
HP:0001257, HP:0001260 |
| HPO |
HP:0002465 |
Poor speech |
— |
— |
HP:0002167 |
| HPO |
HP:0002470 |
Nonprogressive cerebellar ataxia |
— |
— |
HP:0001251 |
| HPO |
HP:0002472 |
Small cerebral cortex |
"Reduced size of the cerebral cortex." [HPO:probinson] |
— |
HP:0002538 |
| HPO |
HP:0002474 |
Expressive language delay |
"A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [HPO:probinson] |
— |
HP:0000750 |
| HPO |
HP:0002475 |
Myelomeningocele |
"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column." [HPO:probinson] |
Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. |
HP:0002435 |
| HPO |
HP:0002476 |
Primitive reflex |
"The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant." [PMID:12700289] |
— |
HP:0031826 |
| HPO |
HP:0002478 |
Progressive spastic quadriplegia |
— |
— |
HP:0002191 |
| HPO |
HP:0002480 |
Hepatic encephalopathy |
"Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes." [HPO:probinson] |
— |
HP:0001298 |
| HPO |
HP:0002483 |
Bulbar signs |
— |
— |
HP:0012638 |
| HPO |
HP:0002486 |
Myotonia |
"An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation." [HPO:probinson] |
Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. |
HP:0011804 |
| HPO |
HP:0002487 |
Hyperkinetic movements |
"Motor hyperactivity with excessive movement of muscles of the body as a whole." [HPO:probinson] |
— |
HP:0100022 |