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

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

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

Fanconi Anemia, Complementation Group A

Cancer-Associated Retinopathy,Patellar Tendinitis

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

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

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

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

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

Enchondroma,Pilomyxoid Astrocytoma,Pilocytic Astrocytoma,Adenocarcinoma In Situ,Pancreatic Cancer

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

Dyslexia,Childhood Kidney Cell Carcinoma,Parkinson Disease, Late-Onset,Pick Disease Of Brain,Perivascular Tumor,Renal Cell Carcinoma, Papillary, 1,Renal Cell Carcinoma, Xp11-Associated,Frontotemporal Dementia

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

Motor Neuron Disease,Rift Valley Fever,Waardenburg Syndrome, Type 4b,Myotonic Dystrophy 2,Waardenburg Syndrome, Type 4a,Autosomal Dominant Cerebellar Ataxia,Disease Of Mental Health,Dengue Virus

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

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

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

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