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Mouth opening limitation due to fibrous contracture is a major clinical feature.
The new category might include also other genetic diseases in which headache represents a major clinical feature.
As previously reported [1, 2], the major clinical feature was the sequence of initial hypertensive crisis followed by hypotensive shock, probably caused by severe LV failure.
The vasoocclusive crisis is the major clinical feature of sickle cell anemia, which is believed to be initiated or sustained by sickle (SS) red blood cell (RBC) adhesion to the vascular wall.
Progressive myopathy is a major clinical feature of patients with mitochondrial DNA (mtDNA) disease.
A major clinical feature of NPC is frequent involvement of regional lymph nodes and distant organ metastasis.
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The major clinical features often relate to cardiac impairment.
Nevertheless, the best available mammalian model for DAT deficiency is the DAT knockout (DAT-KO) mouse, which recapitulates the major clinical features of human DTDS patients.
The final analysis subset (n = 784) compares similarly to the full dataset (n = 1273) for major clinical features other than age due to the exclusion of patients ≥75 years, Supplementary Table 1.
The major clinical features include multiple neurofibromas and café au lait spots in the skin.
The major clinical features of L2HGA are developmental delay, cerebellar ataxia and epilepsy.
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