Myopathy, Centronuclear, 1,Wiskott-Aldrich Syndrome,Pontocerebellar Hypoplasia,Myopathy, Centronuclear, 2,Familial Hypocalciuric Hypercalcemia

Thiopurines, Poor Metabolism Of, 1,Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Autosomal Recessive Non-Syndromic Intellectual Disability

Erythematosquamous Dermatosis,Exudative Vitreoretinopathy 6,Myopathy, Congenital, Bailey-Bloch

Eccrine Adenocarcinoma,Pontocerebellar Hypoplasia,Persistent Hyperplastic Primary Vitreous,Familial Hypocalciuric Hypercalcemia

Hypokalemic Periodic Paralysis, Type 1,Leukoencephalopathy With Vanishing White Matter,Myopathy, Congenital, Bailey-Bloch

Muscular Disease,Childhood-Onset Nemaline Myopathy,Congenital Fiber-Type Disproportion,Congenital Structural Myopathy,Myopathy,Myofibrillar Myopathy,Congenital Nemaline Myopathy,Muscle Tissue Disease,Neuromuscular Disease,Bethlem Myopathy 1,Distal Nebulin Myopathy,Myositis,Myopathy, Myofibrillar, 1,Nemaline Myopathy 3,Muscular Dystrophy,Tibial Muscular Dystrophy,Hyaline Body Myopathy,Reducing Body Myopathy,Severe Congenital Nemaline Myopathy,Intermediate Congenital Nemaline Myopathy,Typical Congenital Nemaline Myopathy,Nemaline Myopathy,Myopathy, Myofibrillar, 4,Endocardial Fibroelastosis,Dysphagia,Foot Drop,Centronuclear Myopathy,Myopathy, Myofibrillar, 9, With Early Respiratory Failure,Central Core Myopathy,Myopathy, Spheroid Body,Strabismus,Primary Cutaneous Amyloidosis,Distal Arthrogryposis,Cardioneuromyopathy With Hyaline Masses And Nemaline Rods,Cardiomyopathy, Familial Hypertrophic, 1,Multiple Pterygium Syndrome, Lethal Type,Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome,Left Ventricular Noncompaction,Batten-Turner Congenital Myopathy,Nemaline Myopathy 2,Multiple Pterygium Syndrome, Escobar Variant

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne,Developmental And Epileptic Encephalopathy 4

Double Outlet Right Ventricle,Leukemia, Chronic Myeloid,Acneiform Dermatitis,Chromosome 22q11.2 Duplication Syndrome,Leukemia, Acute Lymphoblastic,Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome,Sarcoma,Papillary Thyroid Microcarcinoma,Chromosome 22q11.2 Deletion Syndrome, Distal,Tetralogy Of Fallot,Digeorge Syndrome,Velocardiofacial Syndrome,Acute Promyelocytic Leukemia,Myasthenic Syndrome, Congenital, 19,Chromosomal Deletion Syndrome,Van Den Ende-Gupta Syndrome

Ectodermal Dysplasia,Suppurative Lymphadenitis,Cardiomyopathy, Familial Hypertrophic, 4,Phagocyte Bactericidal Dysfunction,Chronic Granulomatous Disease,Retinitis Pigmentosa 47,Granulomatous Disease, Chronic, Autosomal Recessive, 4,Granulomatous Disease, Chronic, Autosomal Recessive, 1,Granulomatous Disease, Chronic, Autosomal Recessive, 3,Hypertension, Essential,Granulomatous Disease, Chronic, X-Linked,Lung Abscess

Melanoma,Leukemia, Chronic Myeloid,Latent Syphilis,Sjogren-Larsson Syndrome,Leukemia,Myeloid Leukemia,Sarcoma,Ewing Sarcoma Of Bone,Neurofibrosarcoma,Acute Promyelocytic Leukemia,Miller-Dieker Lissencephaly Syndrome,Myopathy, Centronuclear, 2

Childhood Pilocytic Astrocytoma,Undetermined Early-Onset Epileptic Encephalopathy,Pilomyxoid Astrocytoma,West Syndrome,Disease Of Mental Health,Gestational Trophoblastic Neoplasm,Avoidant Personality Disorder,Chromosome 3pter-P25 Deletion Syndrome,Early Infantile Epileptic Encephalopathy