17p13.3 microduplication syndrome |
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Subcortical band heterotopia |
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Distal 17p13.3 microdeletion syndrome |
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Lissencephaly due to LIS1 mutation |
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Autosomal dominant nonsyndromic intellectual deficit |
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Familial isolated dilated cardiomyopathy |
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Precursor B-cell acute lymphoblastic leukemia |
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B-cell chronic lymphocytic leukemia |
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Precursor T-cell acute lymphoblastic leukemia |
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Young adult-onset Parkinsonism |
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LEOPARD syndrome |
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Noonan syndrome |
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Pilocytic astrocytoma |
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Lymphangioleiomyomatosis |
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Tuberous sclerosis |
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2q37 microdeletion syndrome |
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Giant cell glioblastoma |
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Gliosarcoma |
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Amyotrophic lateral sclerosis |
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Cardiofaciocutaneous syndrome |
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Coffin-Siris syndrome |
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Craniopharyngioma |
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Lissencephaly due to TUBA1A mutation |
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Chronic myeloid leukemia |
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Pallister-Hall syndrome |
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AICA-ribosiduria |
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Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome |
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Inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
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Primary ciliary dyskinesia |
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46,XY complete gonadal dysgenesis |
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46,XY partial gonadal dysgenesis |
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Camurati-Engelmann disease |
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Cystic fibrosis |
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Lissencephaly type 1 due to doublecortin gene mutation |
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Spinocerebellar ataxia type 1 |
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Autosomal dominant Charcot-Marie-Tooth disease type 2O |
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Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures |
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Adrenocortical carcinoma |
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Essential thrombocythemia |
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Familial pancreatic carcinoma |
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Hydranencephaly |
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Li-Fraumeni syndrome |
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Microlissencephaly |
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Papilloma of choroid plexus |
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Autosomal recessive spastic paraplegia type 58 |
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Distal hereditary motor neuropathy type 7 |
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Perry syndrome |
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Juvenile myelomonocytic leukemia |
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Noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
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Peters anomaly |
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Uveal coloboma - cleft lip and palate - intellectual deficit |
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Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
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Multiple endocrine neoplasia type 1 |
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Multiple endocrine neoplasia type 4 |
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Catecholaminergic polymorphic ventricular tachycardia |
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Familial short QT syndrome |
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Romano-Ward syndrome |
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Growth delay due to insulin-like growth factor I resistance |
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Isolated focal cortical dysplasia type IIb |
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Acute myeloblastic leukemia with maturation |
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Acute myeloblastic leukemia without maturation |
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Acute myelomonocytic leukemia |
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Acute promyelocytic leukemia |
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Neuroblastoma |
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Burkitt lymphoma |
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Fibronectin glomerulopathy |
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Hairy cell leukemia |
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Hashimoto-Pritzker syndrome |
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Leber congenital amaurosis |
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Senior-Loken syndrome |
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Familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
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Familial isolated arrhythmogenic ventricular dysplasia, left dominant form |
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Familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
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Squamous cell carcinoma of head and neck |
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Acrodysostosis |
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Acrodysostosis with multiple hormone resistance |
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Autosomal dominant hyper-IgE syndrome |
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Familial congenital palsy of trochlear nerve |
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Familial rhabdoid tumor |
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Fuchs endothelial corneal dystrophy |
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Inherited congenital spastic tetraplegia |
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Pitt-Hopkins syndrome |
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Primary sclerosing cholangitis |
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Desmoid tumor |
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Hepatocellular carcinoma, childhood-onset |
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Pilomatrixoma |
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Heritable pulmonary arterial hypertension |
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Idiopathic pulmonary arterial hypertension |
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Intellectual deficit, Birk-Barel type |
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17q11 microdeletion syndrome |
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2p21 microdeletion syndrome |
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Achondrogenesis type 1A |
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Acrocallosal syndrome |
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Adult-onset distal myopathy due to VCP mutation |
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Angelman syndrome |
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Autosomal dominant Charcot-Marie-Tooth disease type 2A1 |
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Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
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Autosomal dominant spastic paraplegia type 31 |
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type B |
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Autosomal recessive limb-girdle muscular dystrophy type 2H |
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Autosomal recessive nonsyndromic sensorineural deafness type DFNB |
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Bardet-Biedl syndrome |
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Behavioral variant of frontotemporal dementia |
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Bernard-Soulier syndrome |
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Bullous pemphigoid |
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Combined immunodeficiency due to STK4 deficiency |
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Congenital dyserythropoietic anemia type III |
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Congenital fibrosis of extraocular muscles |
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Cowden syndrome |
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Craniorachischisis |
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Diffuse cutaneous systemic sclerosis |
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Distal hereditary motor neuropathy type 5 |
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Estrogen resistance syndrome |
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FTH1-related iron overload |
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Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis |
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Familial leiomyomatosis |
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Fetal and neonatal alloimmune thrombocytopenia |
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Follicular lymphoma |
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Fumaric aciduria |
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Glutathione synthetase deficiency with 5-oxoprolinuria |
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Glutathione synthetase deficiency without 5-oxoprolinuria |
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Glycogen storage disease due to liver phosphorylase kinase deficiency |
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Graham Little-Piccardi-Lassueur syndrome |
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Greig cephalopolysyndactyly syndrome |
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Hereditary sensory and autonomic neuropathy type 2 |
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Herpetic encephalitis |
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Hyperinsulinism due to HNF1A deficiency |
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Isolated ATP synthase deficiency |
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Isolated cytochrome C oxidase deficiency |
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Late-onset autosomal recessive medullary cystic kidney disease |
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Lethal ataxia with deafness and optic atrophy |
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Limited cutaneous systemic sclerosis |
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Limited systemic sclerosis |
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MELAS syndrome |
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MODY syndrome |
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Maternally-inherited Leigh syndrome |
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Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
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Mosaic variegated aneuploidy syndrome |
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Muscular dystrophy, Selcen type |
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Narcolepsy without cataplexy |
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Narcolepsy-cataplexy |
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Occipital encephalocele |
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Partial chromosome Y deletion |
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Phosphoribosylpyrophosphate synthetase superactivity |
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Polymicrogyria due to TUBB2B mutation |
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Polysyndactyly, bilateral |
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Polysyndactyly, unilateral |
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Postaxial polydactyly type A, bilateral |
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Postaxial polydactyly type A, unilateral |
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Postaxial polydactyly type B, bilateral |
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Postaxial polydactyly type B, unilateral |
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Primary hyperoxaluria type 1 |
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Progressive non-fluent aphasia |
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Proteus syndrome |
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Pseudohypoaldosteronism type 2C |
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Pseudohypoaldosteronism type 2E |
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Pyridoxine-dependent epilepsy |
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Pyruvate dehydrogenase E1-beta deficiency |
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Sarcoidosis |
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Semantic dementia |
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Spastic paraplegia - Paget disease of bone |
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TARP syndrome |
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Von Willebrand disease, platelet type |
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Weaver syndrome |
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X-linked Charcot-Marie-Tooth disease type 5 |
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X-linked Emery-Dreifuss muscular dystrophy |
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X-linked non progressive cerebellar ataxia |
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X-linked nonsyndromic sensorineural deafness type DFN |
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Spinocerebellar ataxia type 12 |
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Spinocerebellar ataxia type 17 |
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Pulverulent cataract |
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Spinocerebellar ataxia type 14 |
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Achromatopsia |
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Barth syndrome |
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Cone rod dystrophy |
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Distal 22q11.2 microdeletion syndrome |
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Left ventricular noncompaction |
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Parkinsonian-pyramidal syndrome |
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Primary ciliary dyskinesia - retinitis pigmentosa |
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Retinitis pigmentosa |
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Familial thoracic aortic aneurysm and aortic dissection |
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Moyamoya disease |
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Omenn syndrome |
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T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency |
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