Anterior Horn Cell Disease,Lethal Congenital Contracture Syndrome 1,Lethal Congenital Contracture Syndrome

Ovary Sarcoma

Retinitis Pigmentosa,Burn-Mckeown Syndrome,Distal Hereditary Motor Neuronopathy Type 2,Cockayne Syndrome,Spinal Muscular Atrophy, Type I

Rothmund-Thomson Syndrome, Type 2,Baller-Gerold Syndrome,Werner Syndrome,Fanconi Anemia, Complementation Group A,Bloom Syndrome,Rapadilino Syndrome

Rothmund-Thomson Syndrome, Type 2,Baller-Gerold Syndrome,Familial Colorectal Cancer,Inherited Cancer-Predisposing Syndrome,Wilms Tumor Predisposition,Ovarian Cancer,Breast Cancer,Hereditary Breast Ovarian Cancer Syndrome,Colorectal Cancer,Microcephaly,Werner Syndrome,Fanconi Anemia, Complementation Group A,Cone-Rod Dystrophy 2,Tumor Predisposition Syndrome,Syndromic Intellectual Disability,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Nijmegen Breakage Syndrome,Ataxia-Telangiectasia,Bloom Syndrome,Rapadilino Syndrome

Retinitis Pigmentosa,Corneal Dystrophy, Band-Shaped,Night Blindness,Fundus Dystrophy,Coloboma Of Macula,Cone-Rod Dystrophy 2,Retinitis Pigmentosa 84,Bietti Crystalline Corneoretinal Dystrophy

Interdigitating Dendritic Cell Sarcoma,Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A

Nodal Marginal Zone Lymphoma,Non-Specific Syndromic Intellectual Disability,Noonan Syndrome 3,Telecanthus,Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies

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

Retinitis Pigmentosa 19,Poikiloderma With Neutropenia

Metaphyseal Chondrodysplasia, Schmid Type,Robin Sequence With Cleft Mandible And Limb Anomalies,Dysostosis,Vaginal Cancer,Neurodegeneration With Brain Iron Accumulation,Thrombocytopenia-Absent Radius Syndrome,Mandibulofacial Dysostosis, Guion-Almeida Type,Acrofacial Dysostosis

Charge Syndrome,Amyotrophic Lateral Sclerosis 1,Primary Hyperoxaluria,Carbohydrate Metabolic Disorder,Pilarowski-Bjornsson Syndrome,Schizophrenia 8,Prostate Cancer,Gastric Cancer, Hereditary Diffuse,Apraxia,Autosomal Dominant Non-Syndromic Intellectual Disability,Epilepsy, Familial Temporal Lobe, 1,Hyperoxaluria, Primary, Type I

Hepatitis C,Hepatitis B,Venezuelan Equine Encephalitis,Encephalitis,Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence,Lymphocytic Choriomeningitis,Rare Genetic Intellectual Disability,Hepatitis,Infratentorial Cancer,Ddx3x-Related Neurodevelopmental Disorder,Basal Cell Nevus Syndrome,Precursor T-Cell Acute Lymphoblastic Leukemia,Breast Cancer,Microcephaly,Hepatitis C Virus,Alacrima, Achalasia, And Mental Retardation Syndrome,Noonan Syndrome 3,Disease Of Mental Health,Adult Medulloblastoma,Childhood Medulloblastoma,Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type,Ewing Sarcoma,Syndromic Intellectual Disability,Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome,Medulloblastoma,Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma Of Childhood,Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

Bone Development Disease,Saethre-Chotzen Syndrome,Malignant Fibrous Histiocytoma,Plasma Cell Neoplasm,Uterine Adnexa Cancer,Rothmund-Thomson Syndrome, Type 2,Synostosis,B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1,Familial Retinoblastoma,Neutropenia,Radioulnar Synostosis,Baller-Gerold Syndrome,Craniosynostosis,Telangiectasis,B-Lymphoblastic Leukemia/Lymphoma With T,Cataract,Combined Immunodeficiency,Dyskeratosis Congenita,Skin Atrophy,Werner Syndrome,Lens Disease,Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A,Pediatric Osteosarcoma,Juxtacortical Osteosarcoma,Bone Osteosarcoma,Poikiloderma With Neutropenia,Rothmund-Thomson Syndrome, Type 1,Pharynx Squamous Cell Carcinoma,Parietal Foramina,Li-Fraumeni Syndrome,Myeloma, Multiple,Bloom Syndrome,Osteogenic Sarcoma,Rapadilino Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome,Ichthyosis,Retinitis Pigmentosa,Hair Disease,Robinow Syndrome, Autosomal Recessive 1,Cockayne Syndrome A,Xeroderma Pigmentosum-Cockayne Syndrome Complex,Xeroderma Pigmentosum Group E,Trichothiodystrophy 1, Photosensitive,Cockayne Syndrome,Trichothiodystrophy,Breast Cancer,Xeroderma Pigmentosum, Complementation Group C,Xeroderma Pigmentosum, Complementation Group D,Xeroderma Pigmentosum, Variant Type,Xeroderma Pigmentosum, Complementation Group F,Xeroderma Pigmentosum, Complementation Group G,Skin Carcinoma,Xeroderma Pigmentosum, Complementation Group B,Xfe Progeroid Syndrome,Autosomal Recessive Disease,Trichothiodystrophy 2, Photosensitive,Trichothiodystrophy 3, Photosensitive,Ifap Syndrome 1, With Or Without Bresheck Syndrome,Uv-Sensitive Syndrome

Rothmund-Thomson Syndrome, Type 2,Baller-Gerold Syndrome,Inherited Cancer-Predisposing Syndrome,Ovarian Cancer,Hereditary Breast Ovarian Cancer Syndrome,Werner Syndrome,Xeroderma Pigmentosum, Complementation Group C,Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A,Tumor Predisposition Syndrome,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Bloom Syndrome,Rapadilino Syndrome