16p11.2 Recurrent Microdeletion
|
16p11.2 Recurrent Microdeletion
|
NBKID:
|
ATP8B1 Deficiency
|
ATP8B1 Deficiency
|
NBKID:
|
Acute Intermittent Porphyria
|
Acute Intermittent Porphyria
|
NBKID:
|
Alpha-1 Antitrypsin Deficiency
|
Alpha-1 Antitrypsin Deficiency
|
NBKID:
|
Amyotrophic Lateral Sclerosis Overview
|
Amyotrophic Lateral Sclerosis Overview
|
NBKID:
|
Arginase Deficiency
|
精氨酸酶缺乏症
|
NBKID:
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
NBKID:
|
Autoimmune Lymphoproliferative Syndrome
|
Autoimmune Lymphoproliferative Syndrome
|
NBKID:
|
Autosomal Dominant Leukodystrophy with Autonomic Disease
|
Autosomal Dominant Leukodystrophy with Autonomic Disease
|
NBKID:
|
Biotinidase Deficiency
|
生物素酶缺乏症
|
NBKID:
|
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
|
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
|
NBKID:
|
Citrullinemia Type I
|
Citrullinemia Type I
|
NBKID:
|
Classic Galactosemia and Clinical Variant Galactosemia
|
Classic Galactosemia and Clinical Variant Galactosemia
|
NBKID:
|
Congenital Dyserythropoietic Anemia Type I
|
Congenital Dyserythropoietic Anemia Type I
|
NBKID:
|
Congenital Erythropoietic Porphyria
|
Congenital Erythropoietic Porphyria
|
NBKID:
|
Congenital Myasthenic Syndromes
|
Congenital Myasthenic Syndromes
|
NBKID:
|
DFNA2 Nonsyndromic Hearing Loss
|
DFNA2 Nonsyndromic Hearing Loss
|
NBKID:
|
DFNX1 Nonsyndromic Hearing Loss and Deafness
|
DFNX1 Nonsyndromic Hearing Loss and Deafness
|
NBKID:
|
DYT1 Early-Onset Isolated Dystonia
|
DYT1 Early-Onset Isolated Dystonia
|
NBKID:
|
Deafness-Dystonia-Optic Neuronopathy Syndrome
|
Deafness-Dystonia-Optic Neuronopathy Syndrome
|
NBKID:
|
Diamond-Blackfan Anemia
|
Diamond-Blackfan Anemia
|
NBKID:
|
Duarte Variant Galactosemia
|
Duarte Variant Galactosemia
|
NBKID:
|
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
|
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
|
NBKID:
|
Dystrophic Epidermolysis Bullosa
|
Dystrophic Epidermolysis Bullosa
|
NBKID:
|
EXOSC3-Related Pontocerebellar Hypoplasia
|
EXOSC3-Related Pontocerebellar Hypoplasia
|
NBKID:
|
EZH2-Related Overgrowth
|
EZH2-Related Overgrowth
|
NBKID:
|
Enlarged Parietal Foramina
|
Enlarged Parietal Foramina
|
NBKID:
|
Epidermolysis Bullosa Simplex
|
Epidermolysis Bullosa Simplex
|
NBKID:
|
Epidermolysis Bullosa with Pyloric Atresia
|
Epidermolysis Bullosa with Pyloric Atresia
|
NBKID:
|
Epimerase Deficiency Galactosemia
|
Epimerase Deficiency Galactosemia
|
NBKID:
|
Episodic Ataxia Type 1
|
Episodic Ataxia Type 1
|
NBKID:
|
Erythropoietic Protoporphyria, Autosomal Recessive
|
Erythropoietic Protoporphyria, Autosomal Recessive
|
NBKID:
|
Esophageal Atresia/Tracheoesophageal Fistula Overview
|
Esophageal Atresia/Tracheoesophageal Fistula Overview
|
NBKID:
|
FBLN5-Related Cutis Laxa
|
FBLN5-Related Cutis Laxa
|
NBKID:
|
FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
|
FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
|
NBKID:
|
Factor V Leiden Thrombophilia
|
Factor V Leiden Thrombophilia
|
NBKID:
|
Familial Mediterranean Fever
|
Familial Mediterranean Fever
|
NBKID:
|
Familial Porphyria Cutanea Tarda
|
Familial Porphyria Cutanea Tarda
|
NBKID:
|
Hereditary Transthyretin Amyloidosis
|
Hereditary Transthyretin Amyloidosis
|
NBKID:
|
Fanconi Anemia
|
Fanconi Anemia
|
NBKID:
|
Fukuyama Congenital Muscular Dystrophy
|
Fukuyama Congenital Muscular Dystrophy
|
NBKID:
|
GATA1-Related X-Linked Cytopenia
|
GATA1-Related X-Linked Cytopenia
|
NBKID:
|
Gaucher Disease
|
Gaucher Disease
|
NBKID:
|
Genetic Atypical Hemolytic-Uremic Syndrome
|
Genetic Atypical Hemolytic-Uremic Syndrome
|
NBKID:
|
Hemophagocytic Lymphohistiocytosis, Familial
|
Hemophagocytic Lymphohistiocytosis, Familial
|
NBKID:
|
Hepatic Veno-Occlusive Disease with Immunodeficiency
|
Hepatic Veno-Occlusive Disease with Immunodeficiency
|
NBKID:
|
Hepatoerythropoietic Porphyria
|
Hepatoerythropoietic Porphyria
|
NBKID:
|
Hereditary Dystonia Overview
|
Hereditary Dystonia Overview
|
NBKID:
|
Hereditary Fructose Intolerance
|
Hereditary Fructose Intolerance
|
NBKID:
|
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
|
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
|
NBKID:
|
Huntington Disease
|
Huntington Disease
|
NBKID:
|
Hypophosphatasia
|
Hypophosphatasia
|
NBKID:
|
IPEX Syndrome
|
IPEX Syndrome
|
NBKID:
|
Infantile-Onset Spinocerebellar Ataxia
|
Infantile-Onset Spinocerebellar Ataxia
|
NBKID:
|
Isolated Methylmalonic Acidemia
|
Isolated Methylmalonic Acidemia
|
NBKID:
|
Junctional Epidermolysis Bullosa
|
Junctional Epidermolysis Bullosa
|
NBKID:
|
LAMA2-Related Muscular Dystrophy
|
LAMA2-Related Muscular Dystrophy
|
NBKID:
|
Lymphoproliferative Disease, X-Linked
|
Lymphoproliferative Disease, X-Linked
|
NBKID:
|
Lysinuric Protein Intolerance
|
Lysinuric Protein Intolerance
|
NBKID:
|
Lysosomal Acid Lipase Deficiency
|
Lysosomal Acid Lipase Deficiency
|
NBKID:
|
MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
|
MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
|
NBKID:
|
Mitochondrial DNA Deletion Syndromes
|
Mitochondrial DNA Deletion Syndromes
|
NBKID:
|
Niemann-Pick Disease Type C
|
Niemann-Pick Disease Type C
|
NBKID:
|
Nonsyndromic Hearing Loss and Deafness, DFNA3
|
Nonsyndromic Hearing Loss and Deafness, DFNA3
|
NBKID:
|
Nonsyndromic Hearing Loss and Deafness, Mitochondrial
|
Nonsyndromic Hearing Loss and Deafness, Mitochondrial
|
NBKID:
|
Noonan Syndrome
|
Noonan Syndrome
|
NBKID:
|
Noonan Syndrome with Multiple Lentigines
|
Noonan Syndrome with Multiple Lentigines
|
NBKID:
|
Oculopharyngeal Muscular Dystrophy
|
Oculopharyngeal Muscular Dystrophy
|
NBKID:
|
PIK3CA-Related Segmental Overgrowth
|
PIK3CA Related Segmental Overgrowth
|
NBKID:
|
PLA2G6-Associated Neurodegeneration
|
PLA2G6-Associated Neurodegeneration
|
NBKID:
|
PNPLA6-Related Disorders
|
PNPLA6-Related Disorders
|
NBKID:
|
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
|
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
|
NBKID:
|
Pachyonychia Congenita
|
Pachyonychia Congenita
|
NBKID:
|
Pantothenate Kinase-Associated Neurodegeneration
|
Pantothenate Kinase-Associated Neurodegeneration
|
NBKID:
|
Primary Familial and Congenital Polycythemia
|
Primary Familial and Congenital Polycythemia
|
NBKID:
|
Propionic Acidemia
|
Propionic Acidemia
|
NBKID:
|
Pulmonary Fibrosis, Familial
|
Pulmonary Fibrosis, Familial
|
NBKID:
|
Russell-Silver Syndrome
|
Russell-Silver Syndrome
|
NBKID:
|
Short-Chain Acyl-CoA Dehydrogenase Deficiency
|
Short-Chain Acyl-CoA Dehydrogenase Deficiency
|
NBKID:
|
Shwachman-Diamond Syndrome
|
Shwachman-Diamond Syndrome
|
NBKID:
|
Sitosterolemia
|
Sitosterolemia
|
NBKID:
|
Spinal Muscular Atrophy, X-Linked Infantile
|
Spinal Muscular Atrophy, X-Linked Infantile
|
NBKID:
|
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
|
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
|
NBKID:
|
Systemic Primary Carnitine Deficiency
|
Systemic Primary Carnitine Deficiency
|
NBKID:
|
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
|
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
|
NBKID:
|
Tuberous Sclerosis Complex
|
Tuberous Sclerosis Complex
|
NBKID:
|
Poikiloderma with Neutropenia
|
Poikiloderma with Neutropenia
|
NBKID:
|
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
|
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
|
NBKID:
|
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
|
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
|
NBKID:
|
Variegate Porphyria
|
Variegate Porphyria
|
NBKID:
|
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
NBKID:
|
X-Linked Adrenoleukodystrophy
|
X-Linked Adrenoleukodystrophy
|
NBKID:
|
X-Linked Agammaglobulinemia
|
X-Linked Agammaglobulinemia
|
NBKID:
|
X-Linked Protoporphyria
|
X-Linked Protoporphyria
|
NBKID:
|
ZAP70-Related Combined Immunodeficiency
|
ZAP70-Related Combined Immunodeficiency
|
NBKID:
|
Rhabdoid Tumor Predisposition Syndrome
|
Rhabdoid Tumor Predisposition Syndrome
|
NBKID:
|
Aymé-Gripp Syndrome
|
Aymé-Gripp Syndrome
|
NBKID:
|
BCL11A-Related Intellectual Disability
|
BCL11A-Related Intellectual Disability
|
NBKID:
|
Huppke-Brendel Syndrome
|
Huppke-Brendel Syndrome
|
NBKID:
|
Hyperphosphatemic Familial Tumoral Calcinosis
|
Hyperphosphatemic Familial Tumoral Calcinosis
|
NBKID:
|
Mucopolysaccharidosis Type III
|
Mucopolysaccharidosis Type III
|
NBKID:
|
SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
|
SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
|
NBKID:
|
STAC3 Disorder
|
STAC3 Disorder
|
NBKID:
|
Saul-Wilson Syndrome
|
Saul-Wilson Syndrome
|
NBKID:
|
ETV6 Thrombocytopenia and Predisposition to Leukemia
|
ETV6 Thrombocytopenia and Predisposition to Leukemia
|
NBKID:
|
RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
|
RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
|
NBKID:
|