Fanconi Anemia, Complementation Group A

Achalasia-Addisonianism-Alacrima Syndrome,Seminal Vesicle Tumor,Male Reproductive Organ Benign Neoplasm,Lethal Congenital Contracture Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Neuromuscular Disease,Myotonic Disease,Myotonic Dystrophy 1,Neurofibromatosis, Type I,Muscular Dystrophy,Myotonic Dystrophy,Spinocerebellar Ataxia 8,Oculopharyngeal Muscular Dystrophy,Myotonic Dystrophy 2,Lens Disease,Autosomal Dominant Cerebellar Ataxia,Disease Of Mental Health,Fragile X Syndrome,Huntington Disease-Like 2,Fragile X-Associated Tremor/Ataxia Syndrome,X-Linked Hereditary Ataxia,Spinal And Bulbar Muscular Atrophy, X-Linked 1

Articulation Disorder,Speech Disorder,Mucolipidosis,Tibial Neuropathy,Dyslexia,Tarsal Tunnel Syndrome,Vestibulocochlear Nerve Disease,Vestibular Neuronitis,Osteochondrosis,Mucopolysaccharidosis Iii,Mucopolysaccharidosis-Plus Syndrome,Gnptab-Related Disorders,Gm2-Gangliosidosis, Ab Variant,Gingival Hypertrophy,Disseminated Chorioretinitis,Benign Essential Hypertension,Mucolipidoses,Deficiency Anemia,46,Xy Sex Reversal 7,Osteogenesis Imperfecta, Type Vii,Scheuermann Disease,Autosomal Recessive Disease,Hurler Syndrome,Charcot-Marie-Tooth Disease, Axonal, Type 2v,Her2-Receptor Positive Breast Cancer,Stuttering,Legg-Calve-Perthes Disease,Mucolipidosis Ii Alpha/Beta,Mucolipidosis Iii Alpha/Beta,Mucolipidosis Iii Gamma,Mucopolysaccharidosis, Type Iiia

Amyotrophic Lateral Sclerosis 1,Feingold Syndrome 1,Intestinal Atresia,Pancreas, Annular,Vacterl Association,Gastrointestinal Defects And Immunodeficiency Syndrome,Pallister-Hall Syndrome,Microphthalmia, Syndromic 3,Anus, Imperforate

Follicular Adenoma,Retinitis Pigmentosa,Myopathy,Myotonic Dystrophy 1,Cervical Non-Keratinizing Squamous Cell Carcinoma,Periampullary Adenocarcinoma,Ovarian Cancer,Breast Cancer,Colorectal Cancer,Juvenile Polyposis Syndrome,Disease Of Mental Health,Retinitis Pigmentosa 49,Scalp-Ear-Nipple Syndrome,Renal Cell Carcinoma, Nonpapillary

Dysostosis,Synostosis,Burn-Mckeown Syndrome,Phocomelia,Radioulnar Synostosis,Charcot-Marie-Tooth Disease X-Linked Recessive 4,Hereditary Hearing Loss And Deafness,Usher Syndrome, Type Iia,Cerebrocostomandibular Syndrome,Cleft Palate, Isolated,Mandibulofacial Dysostosis, Guion-Almeida Type,Ehlers-Danlos Syndrome, Classic Type, 1,Humeroradial Synostosis,Acrofacial Dysostosis Syndrome Of Rodriguez,Acrofacial Dysostosis,Acrofacial Dysostosis 1, Nager Type,Treacher Collins Syndrome 1,Postaxial Acrofacial Dysostosis

Heart Disease,Small Intestine Neuroendocrine Neoplasm,Small Intestine Benign Neoplasm,Renal Cell Carcinoma, Papillary, 1,Renal Cell Carcinoma, Xp11-Associated,Mental Retardation, X-Linked, Syndromic 34,Syndromic Intellectual Disability

Porokeratosis

Brittle Bone Disorder

Diabetes Mellitus,Wolfram Syndrome 1,Testicular Cancer,Wolfram Syndrome,Hepatocellular Carcinoma,Type 2 Diabetes Mellitus,Maturity-Onset Diabetes Of The Young

Diamond-Blackfan Anemia,Ulnar-Mammary Syndrome,Autosomal Dominant Non-Syndromic Intellectual Disability,Autosomal Dominant Non-Syndromic Intellectual Disability 1

Cancer-Associated Retinopathy,Patellar Tendinitis

Charge Syndrome,Thymus Lymphoma,Microcephaly,Coloboma Of Macula,Verheij Syndrome,Xeroderma Pigmentosum, Complementation Group B,Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities

Psychotic Disorder,Schizoaffective Disorder,Schizophrenia 19,Schizophrenia

Diamond-Blackfan Anemia 4,Premature Menopause,Disease Of Mental Health,Scalp-Ear-Nipple Syndrome,Fragile X Syndrome

Hepatocellular Carcinoma

Gastrointestinal Neuroendocrine Benign Tumor,Spleen Cancer,Gastric Neuroendocrine Neoplasm,Breast Liposarcoma,Wolfram Syndrome 2,Mullegama-Klein-Martinez Syndrome,Chromosome 1p36 Deletion Syndrome

Connective Tissue Disease,Parainfluenza Virus Type 3,Sjogren Syndrome,Growth Hormone Deficiency,Mixed Connective Tissue Disease,Limited Scleroderma,Isolated Growth Hormone Deficiency, Type V,Systemic Lupus Erythematosus,Isolated Growth Hormone Deficiency,Microcephalic Osteodysplastic Primordial Dwarfism, Type I,Isolated Growth Hormone Deficiency, Type Ia

Colon Small Cell Carcinoma,Pineal Region Germinoma,B-Cell Adult Acute Lymphocytic Leukemia

Optic Nerve Disease,Ocular Hypertension,Hordeolum,Retinal Ischemia,Optic Nerve Hypoplasia, Bilateral

Systemic Scleroderma,Facial Hemiatrophy,Dyskinesia Of Esophagus,Connective Tissue Disease,Splenic Tuberculosis,Telangiectasis,Collagen Disease,Lupus Erythematosus,Childhood Type Dermatomyositis,Mixed Connective Tissue Disease,Limited Scleroderma,Diffuse Scleroderma,Raynaud Disease,Heart Block, Congenital,Hypotrichosis 13,Pericardium Disease,Autoimmune Disease Of Exocrine System,Crest Syndrome,Systemic Lupus Erythematosus,Syndromic X-Linked Intellectual Disability Cabezas Type

Diffuse Glomerulonephritis,Epidermolysis Bullosa, Junctional, Herlitz Type,Hemolytic Uremic Syndrome, Atypical 1,Coffin-Siris Syndrome 1,Arthrogryposis Multiplex Congenita 2, Neurogenic Type

Endometrial Stromal Sarcoma,Myopathy,Bulbar Polio,Atrial Septal Defect 1,Human T-Cell Leukemia Virus Type 2,Patellar Tendinitis,Congenital Myasthenic Syndrome,Mouth Disease,Paralytic Poliomyelitis,Atrial Septal Defect 2,Frontotemporal Dementia

Retinitis Pigmentosa,Myotonic Dystrophy 1,Paraneoplastic Neurologic Disorders,Pontocerebellar Hypoplasia, Type 7,Spinal Muscular Atrophy,Motor Neuron Disease,Muscular Atrophy,Neuroblastoma,Sensory Peripheral Neuropathy,Hallucinogen Abuse,Atrial Septal Defect 1,Cone-Rod Dystrophy 6,Parkinson Disease, Late-Onset,Hyperinsulinemic Hypoglycemia, Familial, 4,Disease Of Mental Health,Retinitis Pigmentosa 49,Scalp-Ear-Nipple Syndrome,Fragile X Syndrome,Lambert-Eaton Myasthenic Syndrome,Lung Cancer

Retinitis Pigmentosa,Endometrial Stromal Sarcoma,Spinocerebellar Ataxia 1,Frontotemporal Dementia

Mouth Disease

Lattice Corneal Dystrophy,Endometrial Stromal Sarcoma,Myopathy,Amyotrophic Lateral Sclerosis 1,T-Cell Lymphoblastic Leukemia/Lymphoma,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Lateral Sclerosis,Spinal Muscular Atrophy,Motor Neuron Disease,Autosomal Dominant Limb-Girdle Muscular Dystrophy,Muscular Dystrophy,Muscular Atrophy,Relapsing-Remitting Multiple Sclerosis,Atrial Septal Defect 1,Human T-Cell Leukemia Virus Type 2,Endometrial Stromal Tumor,Oculopharyngeal Muscular Dystrophy,Multisystem Proteinopathy,Dementia,Paget'S Disease Of Bone,Burkitt Lymphoma,Colorectal Cancer,Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3,Amyotrophic Lateral Sclerosis 20,Disease Of Mental Health,Dermatopathia Pigmentosa Reticularis,Multiple Sclerosis,Spinocerebellar Ataxia 2,Immune Deficiency Disease,Secondary Progressive Multiple Sclerosis,Fragile X-Associated Tremor/Ataxia Syndrome,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Inflammatory Myofibroblastic Tumor,Epithelial-Stromal Tgfbi Dystrophy,Frontotemporal Dementia

Autoimmune Disease,Atrial Septal Defect 2

Endometrial Stromal Sarcoma,Myopathy,Congenital Lymphedema,Myotonic Disease,Myotonic Dystrophy 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Spinocerebellar Ataxia 8,Atrial Septal Defect 1,Endometrial Stromal Tumor,Precursor T-Cell Acute Lymphoblastic Leukemia,Myotonic Dystrophy 2,Congenital Myasthenic Syndrome,Dermatopathia Pigmentosa Reticularis,Hereditary Lymphedema,Mental Retardation, X-Linked, Syndromic, Bain Type

Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies,Epilepsy,Nasal Cavity Benign Neoplasm,Myopathy, Centronuclear, 1,Malt Worker'S Lung,Prostate Squamous Cell Carcinoma,Primary Hyperoxaluria,Microcephaly,Kleefstra Syndrome 2,Disease Of Mental Health,Schizophrenia,Epilepsy, Early-Onset, With Or Without Developmental Delay,Kabuki Syndrome 1,Hyperinsulinemic Hypoglycemia, Familial, 1

Supranuclear Palsy, Progressive, 1,Mutism,Myopathy,Amyotrophic Lateral Sclerosis 11,Akinetic Mutism,Myofibrillar Myopathy,Neuromuscular Disease,Alzheimer Disease,Pica Disease,Dysgraphia,Nominal Aphasia,Amyotrophic Lateral Sclerosis 1,Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Ideomotor Apraxia,Giant Axonal Neuropathy 2,Amyotrophic Lateral Sclerosis 8,Lateral Sclerosis,Spinal Muscular Atrophy,Motor Neuron Disease,Movement Disease,Muscular Atrophy,Dyscalculia,Distal Hereditary Motor Neuronopathy Type 7,Pseudobulbar Palsy,Locked-In Syndrome,Prosopagnosia,Machado-Joseph Disease,Arteriolosclerosis,Multisystem Proteinopathy,Semantic Dementia,Dementia,Tardbp-Related Amyotrophic Lateral Sclerosis,Alexia,Amyotrophic Lateral Sclerosis 4, Juvenile,Perry Syndrome,Speech And Communication Disorders,Progressive Muscular Atrophy,Pick Disease Of Brain,Postencephalitic Parkinson Disease,Autosomal Dominant Cerebellar Ataxia,Amyotrophic Lateral Sclerosis 19,Niemann-Pick Disease,Liposarcoma,Disease Of Mental Health,Masp2 Deficiency,Dermatopathia Pigmentosa Reticularis,Dementia, Lewy Body,Fragile X Syndrome,Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4,Ophthalmomyiasis,Spinocerebellar Ataxia 2,Nonaka Myopathy,Alzheimer Disease 7,Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4,Huntington Disease,Epilepsy, Idiopathic Generalized 2,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Aphasia,Writing Disorder,Inclusion Body Myositis,Associative Agnosia,Simultanagnosia,Amyotrophic Lateral Sclerosis Type 6,Amyotrophic Lateral Sclerosis Type 12,Agraphia,Neuronopathy, Distal Hereditary Motor, Type Viib,Amyotrophic Lateral Sclerosis, Juvenile, With Dementia,Amyotrophic Lateral Sclerosis Type 22,Spinal And Bulbar Muscular Atrophy, X-Linked 1,Frontotemporal Dementia,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Ulcerative Blepharitis,Spinal Muscular Atrophy,Salpingitis Isthmica Nodosa

Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia,Lattice Corneal Dystrophy,Tremor, Hereditary Essential, 4,Amyotrophic Lateral Sclerosis 18,Supranuclear Palsy, Progressive, 1,Retinitis Pigmentosa,Anal Carcinoma In Situ,Amyotrophic Lateral Sclerosis 11,Clear Cell Sarcoma,Tremor,Dedifferentiated Liposarcoma,Myxofibrosarcoma,Neuromuscular Disease,Fibrous Histiocytoma,Connective Tissue Cancer,Progressive Bulbar Palsy,Pica Disease,Dysgraphia,Nominal Aphasia,Extraosseous Chondrosarcoma,Amyotrophic Lateral Sclerosis 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Ideomotor Apraxia,Giant Axonal Neuropathy 2,Amyotrophic Lateral Sclerosis 8,Lateral Sclerosis,Spinal Muscular Atrophy,Motor Neuron Disease,Movement Disease,Muscular Atrophy,Locked-In Syndrome,Essential Tremor,Multisystem Proteinopathy,Synovium Cancer,Dementia,Cerebellar Disease,Juvenile Amyotrophic Lateral Sclerosis,Chondroid Lipoma,Dystonia,Myeloid Leukemia,Tremor, Hereditary Essential, 2,Well-Differentiated Liposarcoma,Cellular Myxoid Liposarcoma,Pediatric Liposarcoma,Pleomorphic Liposarcoma,Mixed Liposarcoma,Sclerosing Liposarcoma,Amyotrophic Lateral Sclerosis 4, Juvenile,Speech And Communication Disorders,Progressive Muscular Atrophy,Kidney Fibrosarcoma,Rhabdomyosarcoma,Pick Disease Of Brain,Myxoid Liposarcoma,Autosomal Dominant Cerebellar Ataxia,Sarcoma,Fibrosarcoma,Liposarcoma,Disease Of Mental Health,Dentatorubral-Pallidoluysian Atrophy,Dermatopathia Pigmentosa Reticularis,Dementia, Lewy Body,Hemochromatosis, Type 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2,Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4,Sarcoma, Synovial,Spinocerebellar Ataxia 2,Tremor, Hereditary Essential, 3,Amyotrophic Lateral Sclerosis 21,Amyotrophic Lateral Sclerosis 9,Alzheimer Disease 7,Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia,Tremor, Hereditary Essential, 1,Ewing Sarcoma,Amyotrophic Lateral Sclerosis 16, Juvenile,Chondrosarcoma, Extraskeletal Myxoid,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3,Epilepsy, Familial Temporal Lobe, 8,Fragile X-Associated Tremor/Ataxia Syndrome,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Autism Spectrum Disorder,Aphasia,Writing Disorder,Associative Agnosia,Amyotrophic Lateral Sclerosis Type 6,Amyotrophic Lateral Sclerosis Type 12,Amyotrophic Lateral Sclerosis Type 14,Lipomatosis, Multiple,Amyotrophic Lateral Sclerosis Type 22,Epithelial-Stromal Tgfbi Dystrophy,Spinal And Bulbar Muscular Atrophy, X-Linked 1,Frontotemporal Dementia,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7