Neurohypophyseal diabetes insipidus (https://omim.org/entry/125700) is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).
Súvisiace produkty
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PROGRESÍVNA EXTERNÁ OFTALMOPLÉGIA
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IMUNODEFICIENCIA 2 – TACI
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ADNFLE (AUT. DOM. NOCTURNAL FRONTAL LOBE EPILEPSY)
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HEREDITÁRNY DIFÚZNY KARCINÓM ŽALÚDKA/HBOC