A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, a

SNOMEDCT-BE (disorder) / 771476007

SNOMEDCT-BE (hypertelorism, a / 771476007

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syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire

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Chang Davidson Carlson syndrome

SNOMEDCT-BE (disorder) / 733113002

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syndrome de dyskinésie ciliaire primitive-rétinite pigmentaire

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Primary ciliary dyskinesia and retinitis pigmentosa syndrome

SNOMEDCT-BE (disorder) / 719282008

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syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique

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A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hype

SNOMEDCT-BE (disorder) / 778021002

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rétinite pigmentaire

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Retinitis pigmentosa

SNOMEDCT-BE (disorder) / 28835009

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rétinite à Histoplasma capsulatum

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Histoplasma capsulatum with retinitis