Tuberculum Sellae Meningioma,Griscelli Syndrome, Type 3,Ohdo Syndrome, Sbbys Variant,Sella Turcica Neoplasm,Schizophrenia,Ohdo Syndrome

Amyotrophic Lateral Sclerosis 1,Spinocerebellar Ataxia 7,Chromosome 16p13.3 Deletion Syndrome, Proximal

Charge Syndrome,Robinow Syndrome, Autosomal Recessive 1,Chromosome 14q11-Q22 Deletion Syndrome,Vacterl Association,Schimke Immunoosseous Dysplasia,Vater/Vacterl Association,Baraitser-Winter Syndrome,Autosomal Dominant Non-Syndromic Intellectual Disability

Cerebellar Agenesis,Differentiated Thyroid Carcinoma,Breast Cancer,8p11 Myeloproliferative Syndrome,Adult Dermatomyositis,Childhood Type Dermatomyositis,Lung Squamous Cell Carcinoma

Melanoma,Phimosis,Chung-Jansen Syndrome,Syndromic Intellectual Disability,Autosomal Dominant Non-Syndromic Intellectual Disability

Juvenile Type Testicular Granulosa Cell Tumor,Ventricular Septal Defect,Spinal Meningioma,Heart Disease,Ovarian Small Cell Carcinoma,Spinal Canal And Spinal Cord Meningioma,Charge Syndrome,Lymphosarcoma,Hypertrichosis,Atrial Heart Septal Defect,Smarca4-Deficient Sarcoma Of Thorax,Cerebral Palsy,Homozygous Familial Hypercholesterolemia,Atypical Teratoid Rhabdoid Tumor,Amyotrophic Lateral Sclerosis 1,Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome,Developmental And Epileptic Encephalopathy 14,Infratentorial Cancer,Alpha Thalassemia-X-Linked Intellectual Disability Syndrome,Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type,Neuroblastoma,Inherited Cancer-Predisposing Syndrome,Oculopharyngeal Muscular Dystrophy,Ovarian Clear Cell Adenocarcinoma,Testicular Granulosa Cell Tumor,Clear Cell Adenofibroma,Cockayne Syndrome,Primary Hyperoxaluria,Carbohydrate Metabolic Disorder,Breast Cancer,Microphthalmia,Rhabdoid Tumor Predisposition Syndrome 2,Familial Hypercholesterolemia,Hepatocellular Carcinoma,Endometrioid Ovary Carcinoma,Microcephaly,Neurilemmomatosis,Rhabdomyosarcoma,Clark-Baraitser Syndrome,Alacrima, Achalasia, And Mental Retardation Syndrome,Cleft Palate, Isolated,Gastric Cancer,Disease Of Mental Health,Choroid Plexus Cancer,Alpha-Thalassemia,Rhabdoid Cancer,Kidney Rhabdoid Cancer,Chromosome 16p13.3 Deletion Syndrome, Proximal,Retinoblastoma,Orofacial Cleft 8,Childhood Medulloblastoma,Adiaspiromycosis,Basan Syndrome,Neural Tube Defects,Strabismus,Coffin-Siris Syndrome 1,Floating-Harbor Syndrome,Schimke Immunoosseous Dysplasia,Small Cell Carcinoma,Tumor Predisposition Syndrome,Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations,Acute Promyelocytic Leukemia,Hypercholesterolemia, Familial, 1,Non-Syndromic Intellectual Disability,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Coffin-Siris Syndrome 4,Congenital Disorder Of Glycosylation, Type Ig,Autism Spectrum Disorder,Cartilage-Hair Hypoplasia,Kabuki Syndrome 1,Uv-Sensitive Syndrome,Autosomal Dominant Non-Syndromic Intellectual Disability,Medulloblastoma,Neuroblastoma 1,Lung Cancer,Epilepsy, Familial Temporal Lobe, 1,Hyperoxaluria, Primary, Type I

Breast Cancer,Gastric Cancer,Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

Granular Cell Carcinoma,Malignant Granular Cell Myoblastoma,Endometrial Adenosquamous Carcinoma,Hepatocellular Carcinoma,Neurilemmomatosis,Rhabdoid Cancer,Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly,Autosomal Dominant Non-Syndromic Intellectual Disability

Leukemia, Acute Myeloid,Salivary Gland Disease,Intestinal Botulism,Foodborne Botulism,Wound Botulism,Infant Botulism,Salivary Gland Carcinoma,Nut Midline Carcinoma

Movement Disease,Blepharospasm,Parkinson Disease, Late-Onset,Dystonia, Dopa-Responsive,Dystonia 12,Focal Dystonia,Multifocal Dystonia,Segmental Dystonia,Hemidystonia,Lymphatic Malformation 5,Dystonia 3, Torsion, X-Linked,Hereditary Lymphedema Ii

Epilepsy,Leukemia, Acute Myeloid,Benign Epilepsy With Centrotemporal Spikes,Diamond-Blackfan Anemia 3,Adolescence-Adult Electroclinical Syndrome,Photosensitive Epilepsy,Nut Midline Carcinoma,Epilepsy, Myoclonic Juvenile,Epilepsy, Idiopathic Generalized

Chronic Dacryoadenitis,Hereditary Melanoma,Rhabdoid Cancer,Nut Midline Carcinoma

Wilms Tumor 5,Primary Hyperoxaluria,Carbohydrate Metabolic Disorder,Breast Medullary Carcinoma,Colorectal Cancer,Wilms Tumor 1,Transient Neonatal Diabetes Mellitus,Hyperoxaluria, Primary, Type I

Inflammatory Spondylopathy,Deficiency Anemia,Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

Parkinsonism,Movement Disease,Blepharospasm,Dystonia,Parkinson Disease, Late-Onset,Disease Of Mental Health,Retinoblastoma,Dystonia, Dopa-Responsive,Dystonia 12,Mental Retardation, X-Linked, Syndromic 33,Alternating Hemiplegia Of Childhood,Focal Dystonia,Multifocal Dystonia,Segmental Dystonia,Hemidystonia,Huntington Disease,Syndromic Intellectual Disability,Lymphatic Malformation 5,Rett Syndrome,Dystonia 3, Torsion, X-Linked,Hereditary Lymphedema Ii

Hemangioma Of Spleen,Spinocerebellar Ataxia 7,Microphthalmia,Prostate Cancer,Chromosome 16p13.3 Deletion Syndrome, Proximal,Holt-Oram Syndrome

Flying Phobia,Chromosomal Disease,Uterine Carcinosarcoma,Charge Syndrome,Squamous Cell Carcinoma,Retinitis Pigmentosa,Cornelia De Lange Syndrome,Cockayne Syndrome A,T-Cell Lymphoblastic Leukemia/Lymphoma,Amelogenesis Imperfecta,Rare Genetic Intellectual Disability,Menke-Hennekam Syndrome,Leukemia, Acute Myeloid,Familial Isolated Hypoparathyroidism,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Human T-Cell Leukemia Virus Type 1,Human T-Cell Leukemia Virus Type 2,Monocytic Leukemia,Cockayne Syndrome,Breast Cancer,Squamous Cell Carcinoma, Head And Neck,Microphthalmia,Colorectal Cancer,Microcephaly,Hypoxia,Polydactyly, Postaxial, Type A1,Alacrima, Achalasia, And Mental Retardation Syndrome,Sarcoma,Fibrosarcoma,Prostate Cancer,Disease Of Mental Health,Rubinstein-Taybi Syndrome 2,Cervical Cancer,Chromosome 3pter-P25 Deletion Syndrome,Chromosome 16p13.3 Deletion Syndrome, Proximal,Retinoblastoma,Type 2 Diabetes Mellitus,Rubinstein-Taybi Syndrome 1,Lynch Syndrome,Lung Squamous Cell Carcinoma,Albinism, Ocular, With Late-Onset Sensorineural Deafness,Bladder Urothelial Carcinoma,Neural Tube Defects,Menke-Hennekam Syndrome 2,Esophageal Cancer,Thumb Deformity,Early Infantile Epileptic Encephalopathy,Diffuse Large B-Cell Lymphoma,Gastrointestinal Stromal Tumor,Holt-Oram Syndrome,Huntington Disease,Congenital Disorder Of Glycosylation, Type Ig,Kabuki Syndrome 1,Leukemia, Acute Monocytic,Amelogenesis Imperfecta, Type Ig,Autosomal Dominant Non-Syndromic Intellectual Disability,Otopalatodigital Syndrome, Type I,Hennekam Syndrome,Chromosomal Deletion Syndrome,Nut Midline Carcinoma,Medulloblastoma,Leigh Syndrome,Autosomal Dominant Non-Syndromic Intellectual Disability 19,Lung Cancer,Pancreatic Cancer

Chordoid Meningioma,Premature Menopause,Down Syndrome,Meningioma, Familial,Premature Ovarian Failure 1

Cornelia De Lange Syndrome,Lymphoepithelioma-Like Thymic Carcinoma,Leukemia, Acute Myeloid,Ureteral Obstruction,T-Cell Acute Lymphoblastic Leukemia,Microcephaly,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Cornelia De Lange Syndrome 1,Ewing Sarcoma,Acute Promyelocytic Leukemia,Kbg Syndrome,Nut Midline Carcinoma,Myeloma, Multiple,Medulloblastoma

Adult Hepatocellular Carcinoma,Skin Melanoma,Chromosomal Disease,Dystonia 9,Squamous Cell Carcinoma,Hypertrichosis,Chronic Myelomonocytic Leukemia,Adenoid Cystic Carcinoma,Spasticity,Atrial Heart Septal Defect,Cornelia De Lange Syndrome,Melanoma,Leukemia, Chronic Myeloid,Plasma Cell Neoplasm,Corpus Callosum, Agenesis Of,Amyotrophic Lateral Sclerosis 1,Interatrial Communication,T-Cell Lymphoblastic Leukemia/Lymphoma,Rare Genetic Intellectual Disability,Pectus Carinatum,Motor Neuron Disease,Leukemia,Neonatal Leukemia,Acute Leukemia,Menke-Hennekam Syndrome,Leukemia, Acute Myeloid,Familial Isolated Trichomegaly,Basal Cell Carcinoma,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Machado-Joseph Disease,Human T-Cell Leukemia Virus Type 1,Human T-Cell Leukemia Virus Type 2,Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag,Acute Myeloid Leukemia With T(8;16)(P11;P13) Translocation,Hair Follicle Neoplasm,Myeloid Leukemia,Meningoencephalitis,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Gliosarcoma,Giant Cell Glioblastoma,Colorectal Cancer,Hepatocellular Carcinoma,Tethered Spinal Cord Syndrome,Microcephaly,Hypoxia,Chromosome 16p13.3 Duplication Syndrome,Central Nervous System Disease,Alacrima, Achalasia, And Mental Retardation Syndrome,Prostate Cancer,Disease Of Mental Health,Cervical Cancer,Dentatorubral-Pallidoluysian Atrophy,Chromosome 16p13.3 Deletion Syndrome, Proximal,Retinoblastoma,Gastric Adenocarcinoma,Rubinstein-Taybi Syndrome 1,Lung Squamous Cell Carcinoma,Bladder Urothelial Carcinoma,Beckwith-Wiedemann Syndrome,Menke-Hennekam Syndrome 1,Intraocular Pressure Quantitative Trait Locus,Floating-Harbor Syndrome,Myelodysplastic Syndrome,Thumb Deformity,Diffuse Large B-Cell Lymphoma,Splenic Marginal Zone Lymphoma,Hirschsprung Disease 1,Huntington Disease,Wilms Tumor 1,Meningioma, Familial,Phonagnosia,Kabuki Syndrome 1,Scoliosis,Leukemia, Acute Monocytic,Juvenile Myelomonocytic Leukemia,Autosomal Dominant Non-Syndromic Intellectual Disability,Otopalatodigital Syndrome, Type I,Hennekam Syndrome,Chromosomal Deletion Syndrome,Nut Midline Carcinoma,Myeloma, Multiple,Medulloblastoma,Spinal And Bulbar Muscular Atrophy, X-Linked 1,Autism

Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis,Eyelid Disease,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Ohdo Syndrome, Sbbys Variant,Adult Medulloblastoma,Syndromic Intellectual Disability,Ohdo Syndrome,Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome,Ptosis

Spinal Meningioma,Epithelioid Sarcoma,Spinal Canal And Spinal Cord Meningioma,Chromophil Adenoma Of The Kidney,Chordoma,Clear Cell Papillary Renal Cell Carcinoma,Collecting Duct Carcinoma,Clear Cell Renal Cell Carcinoma,Chromophobe Renal Cell Carcinoma,Intrahepatic Cholangiocarcinoma,Kidney Cancer,Clear Cell Adenofibroma,Neurilemmomatosis,Deafness, Autosomal Recessive 51,Contractural Arachnodactyly, Congenital,Rhabdoid Cancer,Renal Cell Carcinoma, Papillary, 1,Distal Arthrogryposis,Renal Cell Carcinoma, Nonpapillary,Uterine Corpus Endometrial Carcinoma,Autosomal Dominant Non-Syndromic Intellectual Disability,Melanoma, Uveal

Facioscapulohumeral Muscular Dystrophy 1,Sotos Syndrome 1,Pulpitis,Mental Retardation, Autosomal Dominant 52,Autism Spectrum Disorder,Autosomal Dominant Non-Syndromic Intellectual Disability,Autism

Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome,Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly,Mental Retardation, Autosomal Dominant 30,Paragangliomas 5,Fibrodysplasia Ossificans Progressiva,Autism Spectrum Disorder,Ptosis,Autosomal Dominant Non-Syndromic Intellectual Disability

Juvenile Type Testicular Granulosa Cell Tumor,Chiari Malformation,Charge Syndrome,Adenoid Cystic Carcinoma,Cornelia De Lange Syndrome,Smarca4-Deficient Sarcoma Of Thorax,Nicolaides-Baraitser Syndrome,Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome,Developmental And Epileptic Encephalopathy 14,Alpha Thalassemia-X-Linked Intellectual Disability Syndrome,Pituitary Stalk Interruption Syndrome,Psychotic Disorder,Testicular Granulosa Cell Tumor,Brain Cancer,Blepharophimosis,Cockayne Syndrome,Primary Hyperoxaluria,Hepatocellular Carcinoma,Microcephaly,Neurilemmomatosis,Clark-Baraitser Syndrome,Alacrima, Achalasia, And Mental Retardation Syndrome,Schizophrenia 7,Xeroderma Pigmentosum, Variant Type,Disease Of Mental Health,Alpha-Thalassemia,Rhabdoid Cancer,Chromosome 16p13.3 Deletion Syndrome, Proximal,Retinoblastoma,Adiaspiromycosis,Basan Syndrome,Schizophrenia,Odontochondrodysplasia,Brachydactyly,Coffin-Siris Syndrome 1,Floating-Harbor Syndrome,Schimke Immunoosseous Dysplasia,Small Cell Carcinoma,Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations,Non-Syndromic Intellectual Disability,Ohdo Syndrome,Cartilage-Hair Hypoplasia,Uv-Sensitive Syndrome,Autosomal Dominant Non-Syndromic Intellectual Disability,Epilepsy, Familial Temporal Lobe, 1

Hepatic Veno-Occlusive Disease,Crohn'S Disease,Multiple Sclerosis,Hepatic Venoocclusive Disease With Immunodeficiency,Acute Promyelocytic Leukemia

Muscular Disease,Chronic Myelomonocytic Leukemia,Muscle Tissue Disease,Orbital Plasma Cell Granuloma,Antisynthetase Syndrome,Myositis,Differentiated Thyroid Carcinoma,Chronic Orbital Inflammation,Adult Dermatomyositis,Childhood Type Dermatomyositis

Viral Infectious Disease,Chronic Cholangitis,Cholangitis,Autoimmune Cholangitis,Primary Biliary Cholangitis,Herpes Simplex,Cholangitis, Primary Sclerosing,Acute Promyelocytic Leukemia,Autoimmune Disease Of Gastrointestinal Tract,Crest Syndrome,Bjornstad Syndrome

Cat Eye Syndrome,Coloboma Of Macula,Neural Tube Defects

Seizure Disorder,Alzheimer Disease,Non-Specific Syndromic Intellectual Disability,17q24.2 Microdeletion Syndrome,Microcephaly,Alacrima, Achalasia, And Mental Retardation Syndrome,Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies,Disease Of Mental Health,Legius Syndrome,Autism

Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome