Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
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(Orphanet:101097)
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Benign familial neonatal seizures
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(Orphanet:1949)
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CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
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(OMIM:610600)
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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
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(Orphanet:90795)
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Congenital bile acid synthesis defect type 1
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(Orphanet:79301)
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Congenital bile acid synthesis defect type 2
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(Orphanet:79303)
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Congenital bile acid synthesis defect type 3
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(Orphanet:79302)
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Congenital bile acid synthesis defect type 4
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(Orphanet:79095)
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Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
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(Orphanet:83620)
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Congenital multicore myopathy with external ophthalmoplegia
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(Orphanet:98905)
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DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
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(OMIM:304800)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
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(OMIM:612164)
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Epidermolysis bullosa simplex, Dowling-Meara type
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(Orphanet:79396)
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Familial hypoaldosteronism
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(Orphanet:427)
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NEPHROTIC SYNDROME, TYPE 8
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(OMIM:615244)
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Nephrogenic diabetes insipidus
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(Orphanet:223)
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PIGMENTED PURPURIC ERUPTION
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(OMIM:172900)
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Paroxysmal extreme pain disorder
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(Orphanet:46348)
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Pelizaeus-Merzbacher-like due to HSPD1 mutation
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(Orphanet:280288)
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Pierson syndrome
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(Orphanet:2670)
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Short chain acyl-CoA dehydrogenase deficiency
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(Orphanet:26792)
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Vitamin B12-responsive methylmalonic acidemia type cblB
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(Orphanet:79311)
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