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

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

Cancer-Associated Retinopathy,Patellar Tendinitis

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

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

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

Psychotic Disorder,Schizoaffective Disorder,Schizophrenia 19,Schizophrenia

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

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

Fanconi Anemia, Complementation Group A

Brittle Bone Disorder

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

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

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

Retinitis Pigmentosa,Endometrial Stromal Sarcoma,Chronic Neutrophilic Leukemia,Chronic Myelomonocytic Leukemia,Patau Syndrome,Amyotrophic Lateral Sclerosis 1,Extracutaneous Mastocytoma,Indolent Systemic Mastocytosis,Spinal Muscular Atrophy,Sm-Ahnmd,Aggressive Systemic Mastocytosis,Leukemia, Acute Myeloid,Systemic Mastocytosis With Associated Hematologic Neoplasm,Bone Marrow Cancer,Myelodysplastic/Myeloproliferative Neoplasm,Dilated Cardiomyopathy,Endometrial Stromal Tumor,Acute Megakaryoblastic Leukemia In Down Syndrome,Chronic Leukemia,Systemic Mastocytosis,Mastocytosis,Lactic Acidosis,Immune Deficiency Disease,Myelodysplastic Syndrome,Down Syndrome,Holt-Oram Syndrome,Myelofibrosis,Atypical Chronic Myeloid Leukemia,Melanoma, Uveal

Theileriasis,Spermatogenic Failure, X-Linked, 1

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

Med23,Alazami Syndrome,Disease Of Mental Health,Coffin-Siris Syndrome 9,Kbg Syndrome,Isolated Growth Hormone Deficiency,Isolated Growth Hormone Deficiency, Type Ia

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

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

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

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

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

Connective Tissue Disease,Autoimmune Disease,Neuropathy, Hereditary Sensory And Autonomic, Type Iib,Mixed Connective Tissue Disease,Syndromic Intellectual Disability,Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Endometrial Stromal Sarcoma,Ocular Hypertension,Spinal Muscular Atrophy,Paralytic Poliomyelitis

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

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

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

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