Interstitial Nephritis, Karyomegalic,Autosomal Recessive Spastic Paraplegia Type 60,Motor Neuron Disease,Hereditary Spastic Paraplegia,Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A,Seckel Syndrome,Inflammatory Myofibroblastic Tumor

Atrial Septal Defect 6

Primary Ciliary Dyskinesia,Visceral Heterotaxy,Ciliary Dyskinesia, Primary, 1,Ciliary Dyskinesia, Primary, 2,Dextro-Looped Transposition Of The Great Arteries

Tibial Adamantinoma,Spindle Cell Sarcoma,Kidney Sarcoma,Adamantinoma Of Long Bones,Myxofibrosarcoma,Malignant Triton Tumor,Atypical Teratoid Rhabdoid Tumor,Core Binding Factor Acute Myeloid Leukemia,Kidney Clear Cell Sarcoma,Glomus Tumor,Cellular Congenital Mesoblastic Nephroma,Epithelioid Malignant Peripheral Nerve Sheath Tumor,Malignant Glandular Tumor Of Peripheral Nerve Sheath,Cellular Neurofibroma,Synovium Cancer,Subungual Glomus Tumor,Spindle Cell Synovial Sarcoma,Biphasic Synovial Sarcoma,Monophasic Synovial Sarcoma,Mediastinal Mesenchymal Tumor,Spindle Cell Liposarcoma,Synovium Neoplasm,Malignant Peripheral Nerve Sheath Tumor,West Syndrome,Hemangiopericytoma, Malignant,Rapp-Hodgkin Syndrome,Septooptic Dysplasia,Sarcoma, Synovial,Ewing Sarcoma,Chondrosarcoma, Extraskeletal Myxoid,Dermatofibrosarcoma Protuberans

Cowden Syndrome,Cowden Syndrome 1,Subependymal Glioma,Benign Ependymoma,Kidney Angiomyolipoma,Tuberous Sclerosis 2,Proteus Syndrome,Tuberous Sclerosis 1

Connective Tissue Disease,Spinal Muscular Atrophy,Muscular Atrophy,Lupus Erythematosus,Mixed Connective Tissue Disease,Systemic Lupus Erythematosus

Retinitis Pigmentosa 19,Poikiloderma With Neutropenia

Hypotrichosis,Spinal Muscular Atrophy,Hypotrichosis 11,Hypotrichosis Simplex,Hypotrichosis 8,Hypotrichosis 7,Hypotrichosis 4,Systemic Lupus Erythematosus,Hypotrichosis 6,Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Fanconi Anemia, Complementation Group V,Fanconi Anemia, Complementation Group R,Fanconi Anemia, Complementation Group U,Fanconi Anemia, Complementation Group A,Fanconi Anemia, Complementation Group W,Colon Lymphoma

Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive,Craniolenticulosutural Dysplasia

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6,Xeroderma Pigmentosum, Variant Type,Alkhurma Hemorrhagic Fever

Inflammatory Bowel Disease 1,Ulcerative Colitis,Uveoparotid Fever,Crohn'S Disease,Anorectal Stricture,Inflammatory Bowel Disease 10,Inflammatory Bowel Disease,Inflammatory Bowel Disease 5,Inflammatory Bowel Disease 6,Inflammatory Bowel Disease 18,Autoimmune Disease Of Gastrointestinal Tract,Colitis,Ileitis,Ileocolitis,Crohn'S Colitis,Salmonellosis,Celiac Disease 1

Robinow Syndrome, Autosomal Dominant 1,Robinow Syndrome

Eed-Related Overgrowth,Cohen-Gibson Syndrome,Nutmeg Liver,Weaver Syndrome,Myelodysplastic Syndrome

Breast Disease,Alzheimer Disease 15,Syndromic Intellectual Disability,Lung Cancer

Autism

Cockayne Syndrome

Supranuclear Palsy, Progressive, 1,Rem Sleep Behavior Disorder,Spinocerebellar Atrophy,Tremor,Prion Disease,Gaucher'S Disease,Hereditary Late-Onset Parkinson Disease,Sphingolipidosis,Klippel-Feil Syndrome 1,Alzheimer Disease,Ulnar Nerve Lesion,Radial Nerve Lesion,Amyotrophic Lateral Sclerosis 1,Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Parkinsonism,Movement Disease,Isolated Klippel-Feil Syndrome,Testicular Disease,Essential Tremor,Von Economo'S Disease,Dementia,Lrrk2 Parkinson Disease,Sleep Disorder,Dystonia,Nervous System Disease,Klippel-Feil Syndrome,Crohn'S Disease,Parkinson Disease, Late-Onset,Peripheral Nervous System Disease,Parkinson Disease 3, Autosomal Dominant,Parkinson Disease 1, Autosomal Dominant,Athetosis,Pick Disease Of Brain,Postencephalitic Parkinson Disease,Klippel-Feil Syndrome 1, Autosomal Dominant,Autosomal Dominant Cerebellar Ataxia,Disease Of Mental Health,Gaucher Disease, Type I,Toxic Encephalopathy,Failure Of Tooth Eruption, Primary,Rheumatoid Arthritis,Dementia, Lewy Body,Ophthalmomyiasis,Inflammatory Bowel Disease,Gerstmann-Straussler Disease,Parkinson Disease 21,Kufor-Rakeb Syndrome,Leprosy 3,Parkinson Disease 10,Parkinson Disease 8, Autosomal Dominant,Alzheimer Disease 8,Aphasia,Multiple System Atrophy 1,Color Agnosia,Mitochondrial Complex I Deficiency, Nuclear Type 1,Early-Onset Parkinson'S Disease,Parkinson Disease 2, Autosomal Recessive Juvenile,Frontotemporal Dementia,3-Methylglutaconic Aciduria, Type Iii,Parkinson Disease 15, Autosomal Recessive Early-Onset

Learning Disability,Fitzsimmons Syndrome,Noonan Syndrome 1,Pierpont Syndrome,Central Nervous System Hematologic Cancer,Lipomatosis,West Syndrome,Disease Of Mental Health,Acute Promyelocytic Leukemia,Mental Retardation, Autosomal Dominant 41,Rett Syndrome,Autism

Prostate Cancer

Poikiloderma With Neutropenia,Cardiac Valvular Dysplasia, X-Linked

Spinal Muscular Atrophy

Breast Cancer

Kleefstra Syndrome,Kabuki Syndrome 1

Polyposis Syndrome, Hereditary Mixed, 1,Mosaic Variegated Aneuploidy Syndrome,Neuronal Ceroid Lipofuscinosis,Prostate Cancer,Ceroid Lipofuscinosis, Neuronal, 2,Ceroid Lipofuscinosis, Neuronal, 1,Mosaic Variegated Aneuploidy Syndrome 1

X-Linked Nephrolithiasis Type I,Dermatitis, Atopic, 8

Cornelia De Lange Syndrome,Warsaw Breakage Syndrome