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| 98794 | Angelman syndrome due to maternal 15q11q13 deletion
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| 98793 | Prader-Willi syndrome due to paternal 15q11q13 deletion
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| 98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
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| 98806 | Primary dystonia, DYT6 type
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| 98805 | Primary dystonia, DYT4 type
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| 98788 | Pitt-Rogers-Danks syndrome
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| 98784 | Autosomal dominant nocturnal frontal lobe epilepsy
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| 98764 | Spinocerebellar ataxia type 27
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| 98763 | Spinocerebellar ataxia type 14
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| 98766 | Spinocerebellar ataxia type 5
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| 98765 | Spinocerebellar ataxia type 4
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| 98760 | Spinocerebellar ataxia type 8
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| 98759 | Spinocerebellar ataxia type 17
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| 98762 | Spinocerebellar ataxia type 12
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| 98761 | Spinocerebellar ataxia type 10
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| 98772 | Spinocerebellar ataxia type 19/22
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| 98771 | Spinocerebellar ataxia type 18
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| 98773 | Spinocerebellar ataxia type 21
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| 98768 | Spinocerebellar ataxia type 13
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| 98767 | Spinocerebellar ataxia type 11
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| 98770 | Spinocerebellar ataxia type 16
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| 98769 | Spinocerebellar ataxia type 15/16
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| 98747 | Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect
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| 98748 | Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect
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| 98749 | Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
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| 98750 | Autoimmune neurological channelopathy
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| 98743 | Genetic neurological channelopathy of the central nervous system
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| 98744 | Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
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| 98745 | Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
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| 98746 | Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
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| 98755 | Spinocerebellar ataxia type 1
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| 98756 | Spinocerebellar ataxia type 2
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| 98757 | Spinocerebellar ataxia type 3
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| 98758 | Spinocerebellar ataxia type 6
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| 98751 | Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect
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| 98752 | Autoimmune neurological channelopathy due to a potassium channel defect
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| 98753 | Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect
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| 98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
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| 98352 | Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
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| 98353 | Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
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| 98356 | Autosomal recessive isolated diffuse palmoplantar keratoderma
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| 98357 | Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
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| 98343 | Male infertility due to obstructive azoospermia
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| 98345 | Rare idiopathic male infertility
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| 98349 | Autosomal dominant isolated diffuse palmoplantar keratoderma
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| 98306 | Familial partial lipodystrophy
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| 98305 | Genetic lipodystrophy
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| 98307 | Acquired lipodystrophy
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| 98298 | Ichthyosis associated with a peroxisomal disease
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| 98297 | Ichthyosis associated with a protein catabolism anomaly
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| 98296 | Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly
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| 98301 | Laminopathy
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| 98300 | Idiopathic interstitial pneumonia
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| 98299 | Ichthyosis associated with a nucleotide excision repair anomaly
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| 98313 | Male infertility due to gonadal dysgenesis
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| 98396 | Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
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| 98421 | Red cell aplasia
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| 98415 | Vitamin B12- and folate-independent constitutional megaloblastic anemia
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| 98408 | Constitutional megaloblastic anemia due to folate metabolism disorder
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| 98374 | Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
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| 98372 | Hemolytic anemia due to a disorder of glycolytic enzymes
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| 98370 | Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
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| 98369 | Rare constitutional hemolytic anemia due to an enzyme disorder
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| 98366 | Constitutional hemolytic anemia due to acanthocytosis
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| 98365 | Hereditary stomatocytosis
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| 98364 | Rare constitutional hemolytic anemia due to a red cell membrane anomaly
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| 98363 | Rare hemolytic anemia
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| 98362 | Constitutional sideroblastic anemia
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| 98360 | Constitutional anemia due to iron metabolism disorder
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| 98375 | Autoimmune hemolytic anemia
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| 98455 | Alpha granule disease
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| 98456 | Dense granule disease
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| 98464 | X-linked syndromic intellectual disability
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| 98468 | Congenital muscular dystrophy due to extracellular matrix protein anomaly
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| 98469 | Congenital muscular dystrophy due to glycosyltransferase anomaly
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| 98470 | Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly
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| 98472 | Skeletal muscle disease
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| 98473 | Muscular dystrophy
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| 98482 | Idiopathic inflammatory myopathy
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| 98486 | Metabolic myopathy
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| 98429 | Rare coagulation disorder
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| 98427 | Polycythemia
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| 98428 | Secondary polycythemia
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| 98434 | Hereditary combined deficiency of vitamin K-dependent clotting factors
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| 98523 | Non-syndromic pontocerebellar hypoplasia
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| 98519 | Posterior fossa malformation
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| 98531 | Tauopathy with a major tau doublet at 60 and 64 kDa
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| 98532 | Tauopathy with a major tau at 60 kDa
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| 98534 | Neurodegenerative disease with dementia
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| 98527 | Tauopathy
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| 98528 | Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration
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| 98529 | Tauopathy with a major tau triplet at 60, 64 and 69 kDa
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| 98530 | Tauopathy with a major tau doublet at 64 and 69 kDa
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| 98540 | Late-onset ataxia with dementia
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| 98539 | Early-onset ataxia with dementia
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| 98542 | Infectious disease with dementia
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| 98535 | Frontotemporal degeneration with dementia
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| 98538 | Ataxia with dementia
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| 98549 | Rare cerebrovascular dementia
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| 98544 | Cerebral lipidosis with dementia
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