Cowden Syndrome,Cowden Syndrome 1,Subependymal Glioma,Benign Ependymoma,Hemimegalencephaly,Subependymal Giant Cell Astrocytoma,Kidney Angiomyolipoma,Tuberous Sclerosis 2,Tuberous Sclerosis,Colorectal Cancer,Kidney Benign Neoplasm,Spinal Cord Disease,Breast Adenocarcinoma,Disease Of Mental Health,Proteus Syndrome,Bladder Urothelial Carcinoma,Renal Cell Carcinoma, Papillary, 1,Tuberous Sclerosis 1,Renal Cell Carcinoma, Nonpapillary,Focal Cortical Dysplasia, Type Ii,Central Nervous System Benign Neoplasm

Retinitis Pigmentosa,Sphingolipidosis,Bardet-Biedl Syndrome,Primary Ciliary Dyskinesia,Legionnaire Disease,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Joubert Syndrome 3,Nephronophthisis,Leber Plus Disease,Retinal Degeneration,Fundus Dystrophy,Parkinson Disease, Late-Onset,Open-Angle Glaucoma,Cone-Rod Dystrophy 2,Bardet-Biedl Syndrome 6,Bardet-Biedl Syndrome 8,Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive,Fanconi Renotubular Syndrome 1,Asphyxiating Thoracic Dystrophy,Glaucoma, Primary Open Angle,Glaucoma, Normal Tension,Meckel Syndrome, Type 1,Carpenter Syndrome 1,Lowe Oculocerebrorenal Syndrome,Diarrhea 2, With Microvillus Atrophy,Autosomal Recessive Non-Syndromic Intellectual Disability,Congenital Diarrhea,Griscelli Syndrome,Bardet-Biedl Syndrome 3,Martsolf Syndrome,Joubert Syndrome 1,Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Carpenter Syndrome 1

Bone Epithelioid Hemangioma,Leukocyte Adhesion Deficiency, Type Iii,Babesiosis,Cervical Non-Keratinizing Squamous Cell Carcinoma,Glanzmann Thrombasthenia,Osteoporosis,Tuberous Sclerosis,Breast Cancer,Meier-Gorlin Syndrome 1,Cerebral Cavernous Malformations,Leukocyte Adhesion Deficiency, Type I,Chronic Granulomatous Disease,Bleeding Disorder, Platelet-Type, 18,Klippel-Trenaunay-Weber Syndrome

Teratocarcinoma,Hutchinson-Gilford Progeria Syndrome,Fragile X Tremor/Ataxia Syndrome,Spondylolisthesis,Vici Syndrome,X-Linked Chondrodysplasia Punctata 1,Pelizaeus-Merzbacher Disease