ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
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(OMIM:231550)
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ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
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(OMIM:615510)
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ATTRV122I amyloidosis
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(Orphanet:85451)
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Adult polyglucosan body disease
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(Orphanet:206583)
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CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM
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(OMIM:118301)
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CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
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(OMIM:610600)
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Dopamine beta-hydroxylase deficiency
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(Orphanet:230)
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Familial dysautonomia
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(Orphanet:1764)
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Familial isolated hypertrophic cardiomyopathy
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(Orphanet:155)
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Hypouricemia, renal, 2
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(OMIM:612076)
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Multiple system atrophy
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(Orphanet:102)
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NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA
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(OMIM:608720)
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ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE
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(OMIM:143850)
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Occipital horn syndrome
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(Orphanet:198)
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PARKINSON DISEASE 4, AUTOSOMAL DOMINANT
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(OMIM:605543)
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PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME
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(OMIM:606721)
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Peripheral motor neuropathy - dysautonomia
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(Orphanet:2400)
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Sandhoff disease
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(Orphanet:796)
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Sandhoff disease, adult form
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(Orphanet:309169)
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Sandhoff disease, infantile form
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(Orphanet:309155)
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Sandhoff disease, juvenile form
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(Orphanet:309162)
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Senile systemic amyloidosis
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(Orphanet:330001)
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Triple A syndrome
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(Orphanet:869)
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Wolfram syndrome 1
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(OMIM:222300)
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