Epilepsy,Yunis-Varon Syndrome,Mixed Receptive-Expressive Language Disorder,Quadriplegia,Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability,Spastic Quadriplegia,Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures,Neurodegeneration With Brain Iron Accumulation 5

Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive,Craniolenticulosutural Dysplasia

Spinal Muscular Atrophy

Robinow Syndrome, Autosomal Recessive 1,Cockayne Syndrome Type Iii,Cockayne Syndrome A,Cockayne Syndrome,Xeroderma Pigmentosum, Complementation Group D,Xeroderma Pigmentosum, Variant Type,Xeroderma Pigmentosum, Complementation Group G,Enophthalmos,Hutchinson-Gilford Progeria Syndrome,Xeroderma Pigmentosum, Complementation Group B,Xfe Progeroid Syndrome,Mitochondrial Complex I Deficiency, Nuclear Type 10,Cockayne Syndrome B,Uv-Sensitive Syndrome 2,Mitochondrial Complex I Deficiency, Nuclear Type 1,Uv-Sensitive Syndrome,Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation,Leigh Syndrome

Nonsyndromic Congenital Nail Disorder,Nemaline Myopathy 1,Achalasia-Addisonianism-Alacrima Syndrome,Nail Disorder, Nonsyndromic Congenital, 4

Robinow Syndrome, Autosomal Dominant 1,Robinow Syndrome

Kleefstra Syndrome,Kabuki Syndrome 1

Autism

Poikiloderma With Neutropenia,Cardiac Valvular Dysplasia, X-Linked

Anterior Horn Cell Disease,Vulto-Van Silfhout-De Vries Syndrome,Autosomal Dominant Non-Syndromic Intellectual Disability,Lethal Congenital Contracture Syndrome 1,Lethal Congenital Contracture Syndrome

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

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

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

Cockayne Syndrome

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

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

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

Peritoneum Cancer,Islet Cell Tumor,Cowden Syndrome,Cervical Adenoma Malignum,Fallopian Tube Disease,Fallopian Tube Carcinoma,Bilateral Breast Cancer,Diffuse Gastric Cancer,Fanconi Anemia, Complementation Group R,Inherited Cancer-Predisposing Syndrome,Sporadic Breast Cancer,Basal Cell Carcinoma,B-Lymphoblastic Leukemia/Lymphoma With T,Bap1 Tumor Predisposition Syndrome,Basal Cell Nevus Syndrome,Dysplastic Nevus Syndrome,Fanconi Anemia, Complementation Group J,Fanconi Anemia, Complementation Group Q,Aplastic Anemia,Ovarian Cancer,Breast Cancer,Hereditary Breast Ovarian Cancer Syndrome,Colorectal Cancer,Pancreatic Cancer 3,Fanconi Anemia, Complementation Group O,Anaplastic Ependymoma,Fanconi Anemia, Complementation Group A,Cervical Mucinous Adenocarcinoma,Breast-Ovarian Cancer, Familial 1,Lynch Syndrome,Fanconi Anemia, Complementation Group N,Fanconi Anemia, Complementation Group P,Fanconi Anemia, Complementation Group D1,Female Breast Cancer,Gastric Cancer, Hereditary Diffuse,Tumor Predisposition Syndrome,Tracheoesophageal Fistula With Or Without Esophageal Atresia,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Li-Fraumeni Syndrome,Ovarian Cancer 1,Medulloblastoma,Melanoma, Cutaneous Malignant 1,Pancreatic Cancer

Retinitis Pigmentosa 19,Poikiloderma With Neutropenia

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

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

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

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

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

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

Fanconi Anemia, Complementation Group L,Familial Atrial Fibrillation

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

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

Cornelia De Lange Syndrome,Warsaw Breakage Syndrome

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