Cask-Related Disorders,Cerebellar Hypoplasia,Constipation,Congenital Nystagmus,Pathologic Nystagmus,Neurofibromatosis, Type I,Fraser Syndrome 1,Cask Disorders,Cerebellar Disease,Dystonia,Glucosephosphate Dehydrogenase Deficiency,Lobular Neoplasia,X-Linked Intellectual Disability, Najm Type,Cask-Related Intellectual Disability,Microcephaly,Hypertonia,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Fg Syndrome 4,Helsmoortel-Van Der Aa Syndrome,Aland Island Eye Disease,Developmental And Epileptic Encephalopathy 8,Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia,Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency,Coffin-Siris Syndrome 1,Early Infantile Epileptic Encephalopathy,Opitz-Kaveggia Syndrome,Pontocerebellar Hypoplasia,Autism,Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay,Peho Syndrome

Bone Disease,Acanthosis Nigricans,Bone Development Disease,Achondroplasia,Physical Disorder,Uterine Carcinosarcoma,Endometrial Cancer,Apert Syndrome,Clear Cell Acanthoma,Autosomal Dominant Polycystic Kidney Disease,Saethre-Chotzen Syndrome,Acanthoma,Squamous Cell Carcinoma,Pfeiffer Syndrome,Lung Cancer Susceptibility 3,Calcinosis,Polycystic Kidney Disease,Pleuropulmonary Blastoma,Acne,Dysostosis,Exophthalmos,Familial Scaphocephaly Syndrome,Exposure Keratitis,Synostosis,Dysgerminoma,Skin Tag,Rasopathy,Deafness, Autosomal Recessive 71,Ectodermal Dysplasia,Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes,Holoprosencephaly,Split Hand-Foot Malformation,Ankylosis,Cervical Keratinizing Squamous Cell Carcinoma,Radioulnar Synostosis,Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate,Plagiocephaly,Syndromic Craniosynostosis,Craniosynostosis,Chronic Inflammation Of Lacrimal Passage,Dacryocystocele,Bile Duct Adenocarcinoma,Esophagus Adenocarcinoma,Nevus, Epidermal,Luteoma,Testicular Spermatocytic Seminoma,Intrahepatic Cholangiocarcinoma,Glioma,Fibrolamellar Carcinoma,Hepatocellular Clear Cell Carcinoma,Cytochrome P450 Oxidoreductase Deficiency,Fgfr Craniosynostosis Syndromes,Bladder Cancer,Pigmentation Disease,Wolffian Duct Adenocarcinoma,Osteoglophonic Dysplasia,Endometrial Adenocarcinoma,Adult Teratoma,Ovarian Cancer,Adenocarcinoma,Eccrine Papillary Adenocarcinoma,Breast Cancer,Glioblastoma,Wells Syndrome,Colorectal Cancer,Hypospadias,Hydrocephalus,Cholesteatoma Of Middle Ear,Scaphocephaly, Maxillary Retrusion, And Mental Retardation,Muenke Syndrome,Syringomyelia,Myxoid Liposarcoma,Van Der Woude Syndrome 1,Cleft Palate, Isolated,Cleidocranial Dysplasia,Gastric Cancer,Prostate Cancer,Disease Of Mental Health,Cholangiocarcinoma,Craniosynostosis 1,Jackson-Weiss Syndrome,Kallmann Syndrome,Crouzon Syndrome,Beare-Stevenson Cutis Gyrata Syndrome,Skin Disease,Gastric Adenocarcinoma,Porokeratosis,Aplasia Of Lacrimal And Salivary Glands,Lung Squamous Cell Carcinoma,Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1,Hydrocephalus, Congenital, 1,Antley-Bixler Syndrome,Split-Hand/Foot Malformation 1,Esophageal Cancer,Hypertelorism, Microtia, Facial Clefting Syndrome,Odontochondrodysplasia,Orofacial Cleft,Strabismus,Hemifacial Hyperplasia,Chromosome 2q35 Duplication Syndrome,Tooth Agenesis,Thanatophoric Dysplasia, Type I,Renal Hypodysplasia/Aplasia 1,Humeroradial Synostosis,Vesicoureteral Reflux 1,Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans,Nasopharyngeal Carcinoma,Bent Bone Dysplasia Syndrome,Hypertelorism,Hypochondroplasia,Estrogen-Receptor Positive Breast Cancer,Carpenter Syndrome 1,Lacrimoauriculodentodigital Syndrome,Scoliosis,Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis,Chromosomal Duplication Syndrome,Lung Cancer,Pancreatic Cancer,Peters-Plus Syndrome,Multiple Pterygium Syndrome, Escobar Variant

Heart Disease,Childhood Acute Lymphocytic Leukemia,Childhood T-Cell Acute Lymphoblastic Leukemia,Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement,Chronic Neutrophilic Leukemia,Melanoma,Chronic Eosinophilic Leukemia,Leukemia, Chronic Myeloid,B-Lymphoblastic Leukemia/Lymphoma,B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1,B-Lymphoblastic Leukemia/Lymphoma With Hypodiploidy,B-Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like,B-Lymphoblastic Leukemia/Lymphoma With Iamp21,Lung Large Cell Carcinoma,Blood Platelet Disease,Essential Thrombocythemia,Myeloproliferative Neoplasm,Testicular Leukemia,Philadelphia-Negative Chronic Myeloid Leukemia,Leukemia,Mixed Phenotype Acute Leukemia,Myelophthisic Anemia,Blood Coagulation Disease,Hypereosinophilic Syndrome,Childhood Leukemia,Leukemia, Acute Myeloid,Bone Marrow Cancer,Myelodysplastic/Myeloproliferative Neoplasm,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Moyamoya Angiopathy,Polycythemia,Leiomyomatosis,Central Nervous System Leukemia,Precursor T-Cell Acute Lymphoblastic Leukemia,Acquired Polycythemia,T-Cell Prolymphocytic Leukemia,Chronic Leukemia,Cockayne Syndrome,Prolymphocytic Leukemia,Lip And Oral Cavity Cancer,Ovarian Cancer,Myeloid Leukemia,T-Cell Acute Lymphoblastic Leukemia,Adult Acute Lymphocytic Leukemia,Breast Cancer,Colorectal Cancer,Congenital Heart Defects And Skeletal Malformations Syndrome,Deficiency Anemia,Leukemia, Acute Lymphoblastic 3,Retinoblastoma,Mental Retardation, Autosomal Dominant 29,Myelodysplastic Syndrome,Mental Retardation, Autosomal Dominant 33,Gastrointestinal Stromal Tumor,Lymphoblastic Leukemia, Acute, With Lymphomatous Features,Wilms Tumor 1,Leukemia, Chronic Lymphocytic,Dermatofibrosarcoma Protuberans,Ataxia-Telangiectasia,B-Cell Adult Acute Lymphocytic Leukemia,Atypical Chronic Myeloid Leukemia,Polycythemia Vera

Pancreatic Adenocarcinoma,Bone Disease,Skin Melanoma,Differentiating Neuroblastoma,Cryptococcal Meningitis,Retinitis Pigmentosa,Myeloid And Lymphoid Neoplasms Associated With Fgfr1 Abnormalities,Lung Cancer Susceptibility 3,Myopathy,Polycystic Kidney Disease,Leukemia, Chronic Myeloid,Gastroesophageal Adenocarcinoma,Bone Sarcoma,Hepatitis B,Rasopathy,Avian Influenza,Myocardial Infarction,Teeth Hard Tissue Disease,Amelogenesis Imperfecta,Essential Thrombocythemia,Neuroblastoma,Leukemia, Acute Myeloid,Cystic Fibrosis,Bone Marrow Cancer,Leukemia, Acute Lymphoblastic,Agammaglobulinemia,Autonomic Nervous System Neoplasm,Bladder Cancer,Osteoporosis,Ovarian Cancer,Pylorus Cancer,Osteopetrosis,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Diamond-Blackfan Anemia 10,Anaplastic Astrocytoma,Colorectal Cancer,Peripheral Nervous System Disease,Hepatocellular Carcinoma,Human Immunodeficiency Virus Type 1,Noonan Syndrome With Multiple Lentigines,Alzheimer Disease 11,Cherubism,Sarcoma,Skin Carcinoma,Cone-Rod Dystrophy 2,Alzheimer Disease 18,Tetanus,Prostate Cancer,Disease Of Mental Health,Signet Ring Cell Adenocarcinoma,Body Mass Index Quantitative Trait Locus 11,Thrombocytopenia,Lynch Syndrome,Lung Squamous Cell Carcinoma,Agammaglobulinemia, X-Linked,Hypotrichosis 1,Wiskott-Aldrich Syndrome,Maturity-Onset Diabetes Of The Young,Acute Promyelocytic Leukemia,Pulmonary Disease, Chronic Obstructive,Hypertension, Essential,Meningioma, Familial,Frank-Ter Haar Syndrome,Estrogen-Receptor Positive Breast Cancer,Estrogen-Receptor Negative Breast Cancer,Coenzyme Q10 Deficiency, Primary, 1,Amelogenesis Imperfecta, Type Ig,Thrombocytopenia 6,Myelofibrosis,Myeloma, Multiple,Medulloblastoma,Lung Cancer,Pancreatic Cancer,Polycythemia Vera

Ganglioneuroblastoma,Kagami-Ogata Syndrome,Status Epilepticus,Peripheral Nervous System Benign Neoplasm,Autonomic Nervous System Benign Neoplasm,Peripheral Nervous System Neoplasm,Alcohol Dependence,Alzheimer Disease,Major Depressive Disorder,Amyotrophic Lateral Sclerosis 1,Undetermined Early-Onset Epileptic Encephalopathy,Paranoid Schizophrenia,Leptin Deficiency Or Dysfunction,Congenital Mesoblastic Nephroma,Ganglioneuroma,Neuroblastoma,Pilomyxoid Astrocytoma,Pilocytic Astrocytoma,Ganglioglioma,Congenital Fibrosarcoma,Autonomic Nervous System Neoplasm,Obsessive-Compulsive Disorder,Sudden Infant Death Syndrome,Nodular Ganglioneuroblastoma,Malignant Giant Cell Tumor Of The Tendon Sheath,Adenocarcinoma,Neuropathy, Hereditary Sensory And Autonomic, Type Iii,Breast Cancer,Parkinson Disease, Late-Onset,Peripheral Nervous System Disease,Oligodendroglioma,Bipolar Disorder,Temporal Lobe Epilepsy,Developmental And Epileptic Encephalopathy 58,West Syndrome,Disease Of Mental Health,Pediatric Fibrosarcoma,Toxic Encephalopathy,Body Mass Index Quantitative Trait Locus 11,Mental Depression,Olfactory Neuroblastoma,Multiple Sclerosis,Obesity, Hyperphagia, And Developmental Delay,Fragile X Syndrome,Schizophrenia,Asperger Syndrome,Hereditary Sensory Neuropathy,Large Cell Neuroendocrine Carcinoma,Attention Deficit-Hyperactivity Disorder,Wilms Tumor 1,Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome,Anxiety,Medulloblastoma,Autism,Central Hypoventilation Syndrome, Congenital,Christianson Syndrome

Leukemia, Chronic Myeloid,Tinea Favosa,Renal Pelvis Adenocarcinoma,Leukemia, Acute Lymphoblastic,Human Immunodeficiency Virus Type 1,Co-Trimoxazole Allergy,Immune Deficiency Disease

Parkinson Disease, Late-Onset,Cataract 8, Multiple Types,Postencephalitic Parkinson Disease,Parkinson Disease 15, Autosomal Recessive Early-Onset

Pneumocystosis,X-Linked Recessive Disease,Lymphopenia,Conjunctivitis,Richter'S Syndrome,Macroglobulinemia,Pyoderma,Cll/Sll,Mast-Cell Leukemia,Polyarticular Juvenile Idiopathic Arthritis,Spherocytosis, Type 5,Ecthyma,B Cell Deficiency,Lung Large Cell Carcinoma,B-Cell Lymphoma,Common Variable Immunodeficiency,Neutropenia,Agammaglobulinemia 1, Autosomal Recessive,Plasma Protein Metabolism Disease,Isolated Agammaglobulinemia,Poliomyelitis,Leukemia, Acute Myeloid,Growth Hormone Deficiency,Leukemia, Acute Lymphoblastic,Agammaglobulinemia,Bacterial Infectious Disease,Breast Cancer,Central Nervous System Hematologic Cancer,Congenital Hypogammaglobulinemia,Immunodeficiency 14,Panniculitis,Immunodeficiency 33,Lymphoma, Non-Hodgkin, Familial,Baylisascariasis,Agammaglobulinemia, X-Linked,Paralytic Poliomyelitis,Immune Deficiency Disease,Myelodysplastic Syndrome,Immunoglobulin A Deficiency 1,Wiskott-Aldrich Syndrome,X-Linked Monogenic Disease,Diffuse Large B-Cell Lymphoma,Mantle Cell Lymphoma,Lymphoplasmacytic Lymphoma,Marginal Zone B-Cell Lymphoma,Splenic Marginal Zone Lymphoma,Williams-Beuren Syndrome,Combined Oxidative Phosphorylation Deficiency 9,Mohr-Tranebjaerg Syndrome,Cd40 Ligand Deficiency,Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia,Immunodeficiency 45,Immunodeficiency With Hyper-Igm, Type 1,Leukemia, Chronic Lymphocytic,Myeloma, Multiple,Isolated Growth Hormone Deficiency,Isolated Growth Hormone Deficiency Type Iii,Waldenstroem'S Macroglobulinemia

Spitzoid Melanoma,Megacolon,Skin Melanoma,Ganglioneuroblastoma,Follicular Adenoma,Autonomic Neuropathy,Retinitis Pigmentosa,Thyroid Gland Cancer,Adenoid Cystic Carcinoma,Peripheral Nervous System Benign Neoplasm,Autonomic Nervous System Benign Neoplasm,Leukemia, Chronic Myeloid,Thyroid Gland Anaplastic Carcinoma,Peripheral Nervous System Neoplasm,Alzheimer Disease,Chagas Disease,Tall Cell Variant Papillary Carcinoma,Amyotrophic Lateral Sclerosis 1,Diabetic Neuropathy,Differentiated Thyroid Carcinoma,Capillary Lymphangioma,Congenital Mesoblastic Nephroma,Neuropathy, Hereditary Sensory And Autonomic, Type V,Ganglioneuroma,Neuroblastoma,Multiple Endocrine Neoplasia, Type Iib,Neuroaxonal Dystrophy,Hypertrophic Pyloric Stenosis,Pyloric Stenosis,Leukemia, Acute Myeloid,Sensory Peripheral Neuropathy,Ocular Cicatricial Pemphigoid,Congenital Fibrosarcoma,Autonomic Nervous System Neoplasm,Multiple Mucosal Neuroma,Uterine Corpus Sarcoma,Benign Struma Ovarii,Malignant Giant Cell Tumor Of The Tendon Sheath,Thyroid Carcinoma,Small Intestinal Sarcoma,Uterus Leiomyosarcoma,Ntrk1 Congenital Insensitivity To Pain With Anhidrosis,Femoral Cancer,Ovarian Cancer,Neuropathy,Neuropathy, Hereditary Sensory And Autonomic, Type Iii,Charcot-Marie-Tooth Disease,Cortical Senile Cataract,Breast Cancer,Adrenal Neuroblastoma,Colorectal Cancer,Peripheral Nervous System Disease,Squamous Blepharitis,Sweat Gland Disease,Papillary Carcinoma,Premature Menopause,Oligodendroglioma,Angiokeratoma Circumscriptum,Pheochromocytoma,Multiple Endocrine Neoplasia, Type Iia,Tooth Disease,Neurogenic Arthropathy,Anhidrosis,Mesenchymal Cell Neoplasm,Cone-Rod Dystrophy 2,Prostate Cancer,Disease Of Mental Health,Mastocytosis,Pediatric Fibrosarcoma,Olfactory Neuroblastoma,Thyroid Gland Follicular Carcinoma,Thyroid Gland Medullary Carcinoma,Hereditary Sensory Neuropathy,Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2,Trigeminal Neuralgia,Hirschsprung Disease 1,Attention Deficit-Hyperactivity Disorder,Neuropathy, Hereditary Sensory And Autonomic, Type Viii,Neuropathy, Hereditary Sensory And Autonomic, Type Iia,Glucocorticoid Deficiency 1,Thyroid Carcinoma, Familial Medullary,Medulloblastoma,Insensitivity To Pain, Congenital, With Anhidrosis,Pancreatic Cancer

T-Cell Lymphoblastic Leukemia/Lymphoma,Nik Deficiency,Trichohepatoenteric Syndrome 1,Pancreatic Adenosquamous Carcinoma,Pancreatic Ductal Adenocarcinoma,Immunodeficiency 50

Large Cell Carcinoma,Lung Large Cell Carcinoma,Cerebral Artery Occlusion,Adenocarcinoma,Breast Cancer,Beriberi,Parkinson Disease, Late-Onset,Colorectal Cancer,Thiamine Deficiency Disease,Tumoral Calcinosis, Hyperphosphatemic, Familial, 1,Wet Beriberi

Dilated Cardiomyopathy,Restrictive Cardiomyopathy,Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy,Familial Atrial Fibrillation

Glycogen Storage Disease Ixa,Glycogen Storage Disease Ixc,Glycogen Storage Disease,Phosphorylase Kinase Deficiency,Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency,Glycogen Storage Disease Ia,Glycogen Storage Disease, Type Ixd,Glycogen Storage Disease Ix,Glycogen Storage Disease Ixb

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

Parkinson Disease, Late-Onset,Cataract 8, Multiple Types,Hepatitis C Virus,Rabies

Adult Hepatocellular Carcinoma,Pancreatic Adenocarcinoma,Bone Disease,Bone Development Disease,Achondroplasia,Heart Disease,Fibrous Dysplasia,Endometrial Cancer,Apert Syndrome,Saethre-Chotzen Syndrome,Charge Syndrome,Pfeiffer Syndrome,Lymphoblastic Lymphoma,Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of Pdgfra, Pdgfrb, And Fgfr1,Retinitis Pigmentosa,Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement,Myeloid And Lymphoid Neoplasms Associated With Fgfr1 Abnormalities,Brain Stem Glioma,Ossifying Fibroma,Melanoma,Chronic Eosinophilic Leukemia,Leukemia, Chronic Myeloid,Cleft Lip,Microform Holoprosencephaly,Hypogonadism,Dysostosis,B-Lymphoblastic Leukemia/Lymphoma,Neuroma,Synostosis,Rasopathy,Deafness, Autosomal Recessive 71,Congenital Hypogonadotropic Hypogonadism,Large Cell Carcinoma,Lung Large Cell Carcinoma,Holoprosencephaly,Osteochondroma,Cleft Lip/Palate,Nail Disorder, Nonsyndromic Congenital, 1,Myeloproliferative Neoplasm,Split Hand-Foot Malformation,Hypogonadotropic Hypogonadism,Semilobar Holoprosencephaly,Ankylosis,Radioulnar Synostosis,Cataract 30,Plagiocephaly,Lobar Holoprosencephaly,Leukemia,Syndromic Craniosynostosis,Craniosynostosis,Neuroblastoma,Mixed Phenotype Acute Leukemia,Pilomyxoid Astrocytoma,Pilocytic Astrocytoma,Cryptorchidism, Unilateral Or Bilateral,Hypereosinophilic Syndrome,Nevus, Epidermal,Acute Leukemia,Normosmic Congenital Hypogonadotropic Hypogonadism,Encephalocraniocutaneous Lipomatosis,Schimmelpenning-Feuerstein-Mims Syndrome,Glioma,Leukemia, Acute Myeloid,Phosphorus Metabolism Disease,Hematologic Cancer,Fibrolamellar Carcinoma,Leukemia, Acute Lymphoblastic,Hepatocellular Clear Cell Carcinoma,Chondroblastoma,Rosette-Forming Glioneuronal Tumor,Dysembryoplastic Neuroepithelial Tumor,Fgfr Craniosynostosis Syndromes,Sensorineural Hearing Loss,Choanal Atresia, Posterior,Infertility,Bladder Cancer,Primary Hypereosinophilic Syndrome,Megaesophagus,Osteoglophonic Dysplasia,Synovial Chondromatosis,Adenocarcinoma,Breast Carcinoma In Situ,Breast Cancer,Glioblastoma,Gliosarcoma,Giant Cell Glioblastoma,Colorectal Cancer,Isolated Trigonocephaly,Hepatocellular Carcinoma,8p11 Myeloproliferative Syndrome,Lipomatosis,Oligodendroglioma,Childhood Oligodendroglioma,Spinal Cord Oligodendroglioma,Adult Oligodendroglioma,Rhabdomyosarcoma,Hartsfield Syndrome,Muenke Syndrome,Pseudopterygium,Chromosome 8p11 Myeloproliferative Syndrome,Spotted Fever,Sarcoma,Cleft Palate, Isolated,Cleidocranial Dysplasia,Coloboma Of Macula,Gastric Cancer,Systemic Mastocytosis,Prostate Cancer,Disease Of Mental Health,Mastocytosis,Jackson-Weiss Syndrome,Body Mass Index Quantitative Trait Locus 11,Kallmann Syndrome,Crouzon Syndrome,Gastric Adenocarcinoma,Lung Squamous Cell Carcinoma,Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1,Bladder Urothelial Carcinoma,Holoprosencephaly 1,Septooptic Dysplasia,Hypophosphatemia,Antley-Bixler Syndrome,Esophageal Cancer,Hypertelorism, Microtia, Facial Clefting Syndrome,Odontochondrodysplasia,Orofacial Cleft,Chromosome 2q35 Duplication Syndrome,Tooth Agenesis,Thanatophoric Dysplasia, Type I,Trigonocephaly 1,Renal Hypodysplasia/Aplasia 1,Lymphoblastic Leukemia, Acute, With Lymphomatous Features,Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans,Salivary Gland Carcinoma,Hypochondroplasia,Hypogonadotropic Hypogonadism 7 With Or Without Anosmia,Lymphoma,Hypophosphatemic Rickets, X-Linked Dominant,Hypogonadotropic Hypogonadism 1 With Or Without Anosmia,Hypogonadotropic Hypogonadism 2 With Or Without Anosmia,Lacrimoauriculodentodigital Syndrome,Myelofibrosis,Medulloblastoma,Atypical Chronic Myeloid Leukemia,Neuroblastoma 1,C Syndrome,Tumoral Calcinosis, Hyperphosphatemic, Familial, 1,Lung Cancer,Oculoectodermal Syndrome,Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay,Pancreatic Cancer

Myopia

Charge Syndrome,Aggressive Systemic Mastocytosis,Breast Cancer,Inclusion Conjunctivitis,Ovary Serous Adenocarcinoma,Thoracic Outlet Syndrome

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