Cerebellar Disease,Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A,Seckel Syndrome,Riddle Syndrome,Lig4 Syndrome,Renal Cell Carcinoma, Nonpapillary,Nijmegen Breakage Syndrome,Ataxia-Telangiectasia,Primary Autosomal Recessive Microcephaly

Epilepsy,Benign Epilepsy With Centrotemporal Spikes,Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism

Heart Conduction Disease,Cerebral Cavernous Malformations 3,Brugada Syndrome,Lung Cancer

Paraplegia,Hemophagocytic Lymphohistiocytosis, Familial, 1,Autonomic Neuropathy,Spasticity,Axonal Neuropathy,Neuropathy, Hereditary Sensory And Autonomic, Type V,Hereditary Spastic Paraplegia 30,Charcot-Marie-Tooth Disease, Axonal, Type 2q,Autosomal Recessive Hereditary Sensory And Autonomic Neuropathy,Hereditary Spastic Paraplegia,Motor Peripheral Neuropathy,Dandy-Walker Syndrome,Neuropathy, Hereditary Sensory And Autonomic, Type Iib,Spastic Paraparesis,Dystonia,Diaphragmatic Eventration,Peho-Like Syndrome,Neuropathy,Charcot-Marie-Tooth Disease,Tukel Syndrome,Goldberg-Shprintzen Syndrome,Epiphyseal Dysplasia, Multiple, 4,Disease Of Mental Health,Spastic Paraplegia 57, Autosomal Recessive,Spastic Paraplegia 30, Autosomal Dominant,Spastic Paraplegia 10, Autosomal Dominant,Spastic Paraplegia 4, Autosomal Dominant,Hereditary Sensory Neuropathy,Neuropathy, Hereditary Sensory, Type Iic,Nescav Syndrome,Masa Syndrome,Spastic Ataxia 2,Spastic Ataxia,Autism Spectrum Disorder,Neuropathy, Hereditary Sensory And Autonomic, Type Iia,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Laryngomalacia,Autosomal Dominant Non-Syndromic Intellectual Disability,Charcot-Marie-Tooth Disease, Axonal, Type 2k,Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation,Autism,Joubert Syndrome 1,Peho Syndrome

Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A,Riddle Syndrome

Seizure Disorder,Neuromuscular Disease,Corpus Callosum, Agenesis Of,Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Neuromuscular Oculoauditory Syndrome,Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome

Skin Melanoma,Cervical Intraepithelial Neoplasia,Neuroendocrine Tumor,Endometrial Cancer,Squamous Cell Carcinoma,Clear Cell Meningioma,Malignant Fibrous Histiocytoma,Endometrial Hyperplasia,Desmoid Tumor,Adenoma,Myxofibrosarcoma,Parathyroid Carcinoma,Adenosarcoma,Mucoepidermoid Carcinoma,Benign Meningioma,B-Cell Lymphoma,Oral Leukoplakia,Sinonasal Undifferentiated Carcinoma,Embryonal Sarcoma,Keratocystic Odontogenic Tumor,Brain Ependymoma,Congenital Mesoblastic Nephroma,Polymorphous Low-Grade Adenocarcinoma,Cavernous Hemangioma,Pulmonary Vein Stenosis,Leiomyoma,Basal Cell Carcinoma,Necrotizing Sialometaplasia,Transitional Cell Carcinoma,Bladder Cancer,Soft Tissue Sarcoma,Spitz Nevus,Leukoplakia,Breast Ductal Carcinoma,Breast Cancer,Colorectal Cancer,Hepatocellular Carcinoma,Ameloblastic Carcinoma,Keratoacanthoma,Inverted Papilloma,Spinal Cord Melanoma,Central Neurocytoma,Bowen'S Disease,Breast Disease,Prostate Cancer,Papillary Thyroid Microcarcinoma,Epithelioid Trophoblastic Tumor,Adrenal Cortical Carcinoma,Breast Fibroadenoma,Bladder Adenocarcinoma,Cervical Squamous Cell Carcinoma,Sarcoma, Synovial,Barrett Esophagus,Gastrointestinal Stromal Tumor,Inflammatory Myofibroblastic Tumor,Renal Cell Carcinoma, Nonpapillary,Meningioma, Familial,Ductal Carcinoma In Situ,Lung Cancer

Laminopathy,Bare Lymphocyte Syndrome, Type I,Glycerol Kinase Deficiency