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Items: 3

1.

COLORBLINDNESS, PARTIAL, PROTAN SERIES

A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. [from HPO]

MedGen UID:
854688
Concept ID:
C3887980
Disease or Syndrome
2.

Protan defect

Hereditary red-green color vision defects manifest mostly in males; the condition is not accompanied by ophthalmologic or other associated clinical abnormalities. Most individuals with protanomalous and deuteranomalous color vision defects (i.e., anomalous trichromats) have no problems in naming colors; some males with mildly defective red-green color vision may not be aware of it until they are tested. Individuals with dichromatic color vision defects (i.e., dichromats) are more proficient in deciphering texture camouflaged by color than observers with normal red-green color vision. Among individuals of northern European origin, about 8% of males and 0.5% of females have red-green color vision defects; these defects are less frequent among males of African (3%-4%) or Asian (3%) origin. [from GeneReviews]

MedGen UID:
56350
Concept ID:
C0155015
Disease or Syndrome
3.

Hereditary spastic paraplegia

The hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness (occurring in variable proportion). When symptoms begin after childhood, they usually progress slowly and steadily. When symptoms begin in very early childhood, they may be non-progressive and resemble spastic diplegic cerebral palsy. HSP is classified as "uncomplicated" if neurologic impairment is limited to lower extremity spastic weakness, hypertonic urinary bladder disturbance, and mild diminution of lower extremity vibration sensation. HSP is classified as "complicated" if the impairment present in uncomplicated HSP is accompanied by other systemic or neurologic abnormalities such as ataxia, seizures, cognitive impairment, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy (in the absence of other causes for these additional features). Neurologic examination of individuals with uncomplicated HSP demonstrates variable degrees of increased muscle tone (spasticity) particularly in the hamstrings, quadriceps, gastrocnemius-soleus, and adductor muscles; weakness in the iliopsoas, hamstring, and tibialis anterior muscles; hyperreflexia at the patella and ankles; often (though not always) mildly reduced vibration sensation in the toes; extensor plantar responses; and spastic gait. [from GeneReviews]

MedGen UID:
20844
Concept ID:
C0037773
Disease or Syndrome
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