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

Robinow Syndrome, Autosomal Dominant 1,Robinow Syndrome

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

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

Anemia, Congenital Dyserythropoietic, Type Ii,Chylomicron Retention Disease,Craniolenticulosutural Dysplasia

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

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

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

Autism

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

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

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

Prostate Cancer

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

Cornelia De Lange Syndrome,Warsaw Breakage Syndrome

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