Genes?

Curated: N/A

Unreviewed: Coronary artery disease, Glioblastoma, Myocardial Infarction, Ovarian neoplasm

Curated: Amnesia, Aortic stenosis, Gouty arthritis, Autism, Bipolar disorder, Body weight, Bradycardia, Calcinosis, Renal cell carcinoma, Cardiomegaly, Cardiomyopathy, Catalepsy, Cerebral hemorrhage, Cerebral palsy, Cholelithiasis, Chondrocalcinosis, Color vision deficiency, Congestive heart failure, Constipation, Cryptogenic west syndrome, Cushing syndrome, Cystitis, Bipolar depression, Major depressive disorder, Diabetes insipidus, Diabetes mellitus, Digestive system disease, Eye disorder, Immune system disorder, Edema, Myoclonic epilepsy, Epilepsy, Tonic-clonic epilepsy, Eye disease, Eye pain, Facial nerve disorder, Fatty liver, Fatty liver, alcoholic, Gastrointestinal disease, Glomerulonephritis, Heart failure, Hematuria, Hemorrhage, Hypercalciuria, Hypertension, Hypertrophic cardiomyopathy, Hypocalcemia, Hypotension, Hypoxia, Immune system disease, Kidney disease, Kidney failure, Liver failure, Long qt syndrome, Melanoma, Metabolic syndrome, Multiple sclerosis, Myasthenia gravis, Myocardial ischemia, Nausea, Necrosis, Obesity, Osteoporosis, Pancreatic diseases, Penile disease, Cushing's disease, Potassium deficiency, Proteinuria, Willis-ekbom disease, Rhabdomyoma, Sacroiliitis, Infantile spasms, Seizures, Sick sinus syndrome, Substance abuse, Synovitis, Diabetes mellitus type 2, Uterine fibroid, West syndrome

Unreviewed: 11-beta-hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency, 46, XY disorder of sex development, Aarskog Syndrome, Acanthosis Nigricans, Achalasia, Acromegaly, ACTH Deficiency, Acth-independent macronodular adrenal hyperplasia, Acute Kidney Insufficiency, Addison`s Disease, Adenocarcinoma, Adenoma, Adrenal Cancer, Adrenal Cortex Diseases, Adrenal Cortical Hypofunction, Adrenal Gland Diseases, Adrenal Gland Pheochromocytoma, Adrenal hyperplasia, Adrenal Hyperplasia, Congenital, Adrenal Hypoplasia, X-Linked, Adrenal Insufficiency, Adrenal neoplasia, Adrenocortical adenoma, Adrenocortical carcinoma, Adrenocorticotropic Hormone Deficiency, Adrenoleukodystrophy, Adrenomyeloneuropathy, Agenesis Of Corpus Callosum, Alacrima, Allergic rhinitis, Ambiguous Genitalia, Amyotrophic Lateral Sclerosis, Anencephaly, Angioedema, Anhedonia, Anorexia, Anorexia nervosa, Antisocial Personality Disorder, Anxiety Disorder, Aplasia Cutis Congenita, Apparent Mineralocorticoid Excess, Arteriosclerosis, Arthritis, Arthropathy, Asthma, Atherosclerosis, Athetoid cerebral palsy, Atrial Fibrillation, Atrial Septal Defect, Atrophy, Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder, Autoimmune Diseases, Autoimmune hepatitis, Autonomic Central Nervous System Diseases, B-Cell Lymphoma, Behavior Disorders, Behcet Syndrome, Benign Neoplasm, Biliary atresia, Bipolar Disorder, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bright Disease, Bronchopulmonary Dysplasia, Bulimia, Carcinoid tumor, Carcinoid Tumor Of Lung, Carcinoma, Cardiovascular disease, Cardiovascular Diseases, Carney Complex, Central hypothyroidism, Cerebral Palsy, Diplegic, Childhood obesity, Cholestasis, Choroid Plexus Papilloma, Chromophobe Carcinoma, Clonic Seizures, CNS Disorder, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Combined pituitary hormone deficiency, Common Variable Immunodeficiency, Cone-rod dystrophy, Congenital adrenal hyperplasia, Congenital adrenal hypoplasia, Congenital central hypoventilation syndrome, Congenital Cerebral Palsy, Congenital Contractural Arachnodactyly, Congenital lipoid adrenal hyperplasia, Congenital Pain Insensitivity, Congestive Heart Failure, Conn Adenoma, Conn Syndrome, Coronary Arteriosclerosis, Coronary artery disease, Cortical cataract, Cortisone Reductase Deficiency, Craniopharyngioma, Craniosynostosis, Critical illness, Crohn Disease, Cryptogenic Tonic-Clonic Epilepsy, Cryptogenic West syndrome, Cushing`s Syndrome, Cutis Laxa, X-Linked, Cyclic Neutropenia, Cystic Fibrosis, Deficiency Of Testosterone Biosynthesis, Dermatitis, Dermatologic Disorders, Dermatomyositis, Dermoid Cyst Of Ovary, Developmental Delay, Developmental disability, Diabetes, Diabetes Insipidus, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Disorder Of Eye, Dry Eye Syndromes, Duchenne muscular dystrophy, Dwarfism, Dyschromatosis symmetrica hereditaria, Dyschromatosis Universalis Hereditaria, Dyskinetic Syndrome, Dyslipidemias, Dystonia, Ectopic ACTH secretion syndrome, Eczema, Encephalitis, Endocrine system disease, Endocrine System Diseases, Epileptic encephalopathy, Erectile Dysfunction, Erythropoietic Protoporphyria, Ewing sarcoma, Extra-Adrenal Pheochromocytoma, Facial paralysis, Fatigue syndrome, Fatty Liver, Femur Head Necrosis, Follicle Stimulating Hormone Deficiency, Functional Gastrointestinal Disorders, Ganglioneuroma, Gastrinoma, Gastrointestinal Diseases, Glioma, Glomerulosclerosis, Glucocorticoid Deficiency, Glucocorticoid Deficiency With Achalasia, Glucocorticoid Receptor Deficiency, Glucocorticoid receptor deficiency/resistance, Glucose Metabolism Disorders, Gonadotropin Deficiency, Gout, Graves Disease, Graves ophthalmopathy, Growth hormone deficiency with pituitary anomalies, Guillain-Barre Syndrome, Hamartoma, Head and neck cancer, Head And Neck Carcinoma, Heart Failure, Hemianopsia, Hemihyperplasia, Hepatitis b, Hepatitis c, Holoprosencephaly, Horner Syndrome, Hyperaldosteronism, Hyperandrogenism, Hyperbilirubinemia, Hypercalcemia, Hypercholesterolemia, Hyperglycemia, Hyperinsulinism, Hyperparathyroidism, Hyperplasia, Hyperthyroidism, Hypoaldosteronism, Hypogammaglobulinemia, Hypoglycemia, Hypoglycemic seizures, Hypogonadism, Hypogonadotropic Hypogonadism, Hypopigmentation Disorder, Hypopituitarism, Hypoplasia Of The Optic Nerve, Hypothyroidism, Hypotonic seizures, Immune System Diseases, Impaired Cognition, Inappropriate ACTH Secretion Syndrome, Inclusion body myopathy, Infantile Spasms, Inflammatory abnormality of the eye, Inflammatory Bowel Disease, Intellectual developmental disorder, Intermittent Porphyria, Interstitial Cystitis, Intestinal Neoplasms, Irritable Bowel Syndrome, Islet Cell Tumor, Isolated Somatotropin Deficiency, Jackknife Seizures, Jacksonian Seizure, Jaundice, Kabuki Syndrome, Kallmann Syndrome, Kaposi Sarcoma, Ketosis, Kidney Disease, Kidney Failure, Kidney stone, Knee osteoarthritis, Language development disorders, Laryngeal Carcinoma, Left posterior fascicular block, LEPTIN RECEPTOR DEFICIENCY, Leukemia, Leydig Cell Tumor, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver neoplasm, Long QT Syndrome, Lung Cancer, Lung carcinoma, Lung Diseases, Lung Neoplasms, Lymphatic Metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoid leukemia, Lymphoma, Lynch syndrome, Malignant Neoplasm, Malnutrition, Mammary Neoplasms, Manic Disorder, McCune-Albright Syndrome, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melancholia, Melasma, Membranous Glomerulonephritis, Mental Depression, Mental Disorders, Mesothelioma, Metabolic alkalosis, Metabolic Diseases, Metabolic Syndrome, Metastatic Melanoma, Microphthalmos, Migraine, Miscarriage, Monoplegic Cerebral Palsy, Mucopolysaccharidosis, Multiple Endocrine Neoplasia, Multiple Sclerosis, Myasthenia Gravis, Myelodysplastic Syndrome, Myocardial Diseases, Myocardial Infarction, Myocardial Ischemia, Myoclonic Astatic Epilepsy, Myoclonic Encephalopathy, Myoclonic Epilepsy, Myotonia Levior, Myotonic dystrophy, Narcolepsy, Neoplasms, Nephrocalcinosis, Nephrotic Syndrome, Nervous System Disorder, Nervous System Neoplasms, Neural tube defect, Neuroblastoma, Neurodegenerative disorder, Neurodevelopmental Disorders, Neuroectodermal Tumors, Neuroendocrine Tumors, Neurofibromatosis, Neuropathy, Nevus comedonicus, Nonorganic Psychosis, Obsessive-Compulsive Disorder, Oligoarticular Arthritis, Opsoclonus-myoclonus syndrome, Osteoarthritis, Osteosarcoma, Ovarian Cysts, Ovarian diseases, Ovarian Failure, Ovarian neoplasm, Oxyphilic Adenoma, Pancreatic carcinoma, Pancreatic Diseases, Pancreatic Endocrine Carcinoma, Pancreatic neoplasm, Pancreatitis, Panhypopituitarism, Papillary Renal Carcinoma, Papillary thyroid carcinoma, Paraganglioma, Paraneoplastic syndrome, Parkinson disease, Pelger-Huet Anomaly, Penile Diseases, Pheochromocytoma, Pigmented Nodular Adrenocortical Disease, Pituitary adenoma, Pituitary carcinoma, Pituitary Dependent Hypercortisolism, Pituitary Diseases, Pituitary dwarfism, Pituitary neoplasm, Pituitary Neoplasms, Pituitary Stalk Interruption Syndrome, Polycystic Ovary Syndrome, Polymyositis, Polyneuropathy, Prader-Willi Syndrome, Precocious Pubarche, Precocious puberty, Premature adrenarche, Premature Menopause, Progressive Pseudorheumatoid Dysplasia, Prolactinoma, Proopiomelanocortin Deficiency, Prostate cancer, Pruritus, Pseudohypoparathyroidism, Psoriasis, Psychosis, Pyogenic Sacroiliitis, Renal Carcinoma, Renal Glomerular Disease, Renal tubular necrosis, Respiratory Distress Syndrome, Respiratory Failure, Restless Legs Syndrome, Retinoblastoma, Rett Syndrome, Rheumatoid arthritis, Salaam Seizures, Sarcoma, Schizophrenia, Scleroderma, Seasonal Affective Disorder, Seborrheic dermatitis, Seizure, Septic Sacroiliitis, Septicemia, Septo-Optic Dysplasia, Short Sleeper Syndromes, Sick Sinus Syndrome, Sinus Node Dysfunction, Skin cancer, Sleep Disorders, Sleep Wake Disorders, Small cell carcinoma, Small cell lung carcinoma, Smith-Lemli-Opitz Syndrome, Somatotroph Adenoma, Somatotropin Deficiency, Spasmus nutans, Spastic Cerebral Palsy, Spastic diplegia, Status Epilepticus, Stomach Carcinoma, Stomach Neoplasms, Stomatocytosis, Stress Disorder, Stroke, Subaortic Stenosis, Sveinsson Chorioretinal Atrophy, Symptomatic West syndrome, Synovial Hypertrophy, Testicular adrenal rest tumor, Testotoxicosis, Thymus Hyperplasia, Thymus Neoplasms, Thyroid Carcinoma, Tonic-Clonic Epilepsy, Trichohepatoenteric Syndrome, Trifascicular block, Trifunctional protein deficiency, Tuberous Sclerosis, Tumor, Tumoral Calcinosis, Tumors Of Adrenal Cortex, Turner Syndrome, Ulcerative colitis, Uveitis, Vascular disease, Vasculitis, Ventricular hypertrophy, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS, von Willebrand disorder, West Syndrome, Williams Syndrome, Wolfram Syndrome, Xeroderma Pigmentosum

Curated: Autism, Limb girdle muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Congenital muscular dystrophy, Congenital neurologic anomalies, Hydrocephalus, Intellectual developmental disorder, Lissencephaly, Macrogyria, Muscle eye brain disease, Muscular dystrophy, Optic atrophy, Retinitis pigmentosa, Walker-warburg syndrome, myopathy caused by variation in POMGNT1

Unreviewed: Absence Of Septum Pellucidum, Agenesis Of Corpus Callosum, alpha-Dystroglycanopathy, Autism Spectrum Disorder, Brain disease, Brain malformation, Cardiomyopathy, Cataract, Cerebellar Hypoplasia, Cobblestone Lissencephaly, Congenital Coloboma Of Iris, Congenital Hypoplasia Of Penis, Congenital Keratoglobus, Congenital Meningocele, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital ocular coloboma, Cortical development malformation, Cryptorchidism, Cyst, Dandy-Walker Syndrome, Developmental Delay, Diabetes Mellitus, Dysmorphic Features, Fabry disease, Fukuyama Type Congenital Muscular Dystrophy, Glaucoma, Glaucoma, congenital, Glioblastoma, Hearing Loss, Hemiplegia/hemiparesis, Holoprosencephaly, Hyperinsulinism, Hypogonadism, Hypoplasia Of The Optic Nerve, Hypoplasia of the retina, Impaired Cognition, Keratoconus, Limb-Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Macrocephaly, Macroglossia, Medulloblastoma, Mental retardation, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Motor delay, Muscle Eye Brain Disease, Muscular Dystrophy-Dystroglycanopathy, Myopathy, Myopia, Neuroblastoma, Neuronal Heterotopia, Normal pressure hydrocephalus, Nyctalopia, Nystagmus, Obesity, Occipital Encephalocele, Optic Atrophy, Pachygyria, Polymicrogyria, Posteriorly Rotated Ear, Retinal Detachment, Retinal Diseases, Retinal Dysplasia, Retinal Dystrophy, Retinitis Pigmentosa, Specific Learning Disorder, Speech Disorders, Strabismus, Submucosal cleft palate, Syndromic microphthalmia, Walker-Warburg Congenital Muscular Dystrophy, Walker-Warburg Syndrome

Curated: Attention deficit hyperactivity disorder, Bipolar disorder, Insomnia, Major depressive disorder, Muscle eye brain disease, Obesity, Post-traumatic stress disorder, Schizophrenia, Substance abuse, Walker-warburg syndrome, myopathy caused by variation in POMGNT2

Unreviewed: Absence Of Septum Pellucidum, Agenesis Of Corpus Callosum, alpha-Dystroglycanopathy, Cataract, Cerebellar Hypoplasia, Cobblestone Lissencephaly, Congenital Coloboma Of Iris, Congenital Hypoplasia Of Penis, Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Cortical development malformation, Cryptorchidism, Dandy-Walker Syndrome, Developmental Delay, Fukuyama Type Congenital Muscular Dystrophy, Glaucoma, Hydrocephalus, Leukemia, Limb-Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Macrocephaly, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Muscle Eye Brain Disease, Muscular dystrophy, Muscular Dystrophy-Dystroglycanopathy, Optic Atrophy, Pachygyria, Polymicrogyria, Posteriorly Rotated Ear, Retinal Detachment, Retinal Dysplasia, Retinal Dystrophy, Specific Learning Disorder, Submucosal cleft palate, Syndromic microphthalmia, Walker-Warburg Congenital Muscular Dystrophy, Walker-Warburg Syndrome

Curated: N/A

Unreviewed: N/A

Curated: Congenital muscular dystrophy, Limb girdle muscular dystrophy, Muscle eye brain disease, Walker-warburg syndrome

Unreviewed: Absence Of Septum Pellucidum, Agenesis Of Corpus Callosum, alpha-Dystroglycanopathy, Cardiomyopathy, Cataract, Cerebellar Hypoplasia, Cobblestone Lissencephaly, Colorectal neoplasm, Congenital Coloboma Of Iris, Congenital Hydrocephalus, Congenital Hypoplasia Of Penis, Congenital Keratoglobus, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Congenital ocular coloboma, Cryptorchidism, Dandy-Walker Syndrome, Developmental Delay, Encephalocele, Fukuyama Type Congenital Muscular Dystrophy, Glaucoma, Hydrocephalus, Hypoplasia Of The Optic Nerve, Hypotonia, Impaired Cognition, Limb-Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Lung carcinoma, Lung disease, Macrocephaly, Macroglossia, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Mirror Movements, Motor delay, Muscle Eye Brain Disease, Muscular dystrophy, Muscular Dystrophy-Dystroglycanopathy, Myopia, Neuronal Heterotopia, Occipital Encephalocele, Optic Atrophy, Pachygyria, Polymicrogyria, Posteriorly Rotated Ear, Retinal Detachment, Retinal Dysplasia, Retinal Dystrophy, Scoliosis, Specific Learning Disorder, Strabismus, Submucosal cleft palate, Syndromic microphthalmia, Vascular remodeling, Walker-Warburg Congenital Muscular Dystrophy, Walker-Warburg Syndrome

Curated: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, Proteasome associated autoinflammatory syndrome, Scoliosis

Unreviewed: Amniotic Bands, Autoimmune Diseases, Brachydactyly, Breast Cancer, Breast Carcinoma, Breast neoplasm, Clinodactyly, Colonic neoplasm, Congenital Nonbullous Ichthyosiform Erythroderma, Dermatologic Disorders, Eosinophilia, Exfoliation Syndrome, Hyperkeratosis, Hypoglycemia, Ichthyosis, Immune system disease, Immunologic Deficiency Syndromes, Keratosis, Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome, Malignant Neoplasm, Multiple myeloma, Myelodysplasia, Myelodysplastic Syndrome, Nail dystrophy, Neoplasms, Palmoplantar keratoderma, Parakeratosis, Proteasome-associated autoinflammatory syndrome, Psoriasis, Severe combined immunodeficiency disease

Curated: N/A

Unreviewed: N/A

Curated: Autism, Limb girdle muscular dystrophy, Cardiomyopathy, Cerebellar ataxia, Cleft lip, Complete unilateral cleft lip, Congenital muscular dystrophy, Congenital neurologic anomalies, Pyridoxine dependent epilepsy, Hearing loss, Intellectual developmental disorder, Lissencephaly, Macrogyria, Muscle eye brain disease, Muscular dystrophy, Sensory neuropathy, Walker-warburg syndrome, myopathy caused by variation in POMT1

Unreviewed: Absence Of Septum Pellucidum, Acquired Kyphoscoliosis, Agenesis Of Corpus Callosum, Agyria, alpha-Dystroglycanopathy, Amyotrophy, Anterior segment dysgenesis, Brain disease, Brain Neoplasms, Campomelic Dysplasia, Cataract, Cerebellar atrophy, Cerebellar Hypoplasia, Cerebral cortical atrophy, Cobblestone Lissencephaly, Cognition disorder, Complement component deficiency, Congenital Clubfoot, Congenital Coloboma Of Iris, Congenital contracture, Congenital Hypoplasia Of Penis, Congenital Keratoglobus, Congenital kyphoscoliosis, Congenital Meningocele, Congenital Microcephaly, Congenital microtia, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy With Intellectual Disability, Congenital Muscular Dystrophy Without Intellectual Disability, Congenital ocular coloboma, Cortical development malformation, Cortical Dysplasia, Craniometaphyseal Dysplasia, Cryptorchidism, Dandy-Walker Syndrome, Developmental Delay, Dilated cardiomyopathy, Encephalocele, Facial paralysis, Fukuyama Type Congenital Muscular Dystrophy, Glaucoma, Glaucoma, congenital, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hypoplasia Of Corpus Callosum, Hypoplasia Of The Optic Nerve, Hypotonia, Impaired Cognition, Imperforate anus, Left Ventricular Hypertrophy, Limb-girdle muscle atrophy, Limb-Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Macrocephaly, Macroglossia, Malformation of cortical development, Meningoencephalocele, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Microtia, Motor delay, Muscle Eye Brain Disease, Muscular Dystrophy-Dystroglycanopathy, Myopathy, Myopia, Neuromuscular Diseases, Neuronal Heterotopia, Occipital Encephalocele, Optic Atrophy, Pachygyria, Penis Agenesis, Polymicrogyria, Posteriorly Rotated Ear, Renal dysplasia, Respiratory Failure, Retinal Detachment, Retinal Dysplasia, Retinal Dystrophy, Retinitis Pigmentosa, Scoliosis, Specific Learning Disorder, Speech Disorders, Strabismus, Submucosal cleft palate, Syndromic microphthalmia, Walker-Warburg Congenital Muscular Dystrophy, Walker-Warburg Syndrome

Curated: Autism, Limb girdle muscular dystrophy, Congenital muscular dystrophy, Intellectual developmental disorder, Lissencephaly, Macrogyria, Muscle eye brain disease, Muscular dystrophy, Walker-warburg syndrome, myopathy caused by variation in POMT2

Unreviewed: Absence Of Septum Pellucidum, Agenesis Of Corpus Callosum, Agyria, alpha-Dystroglycanopathy, Amyotrophy, Anterior segment dysgenesis, Brain malformation, Breast neoplasm, Bundle Branch Block, Campomelic Dysplasia, Cardiomyopathy, Cardiovascular abnormalities, Cataract, Cerebellar Hypoplasia, Cerebral cortical atrophy, Cobblestone Lissencephaly, Cognition disorder, Congenital Coloboma Of Iris, Congenital contracture, Congenital Hypoplasia Of Penis, Congenital Keratoglobus, Congenital Meningocele, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy With Intellectual Disability, Congenital ocular coloboma, Corpus callosum agenesis, Craniometaphyseal Dysplasia, Cryptorchidism, Cystic Kidney Disease, Dandy-Walker Syndrome, Developmental Delay, Developmental disability, Dilated cardiomyopathy, Facial paralysis, Fukuyama Type Congenital Muscular Dystrophy, Glaucoma, Glaucoma, congenital, Heart disease, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hyperopia, Hypoplasia Of Corpus Callosum, Hypoplasia Of The Optic Nerve, Impaired Cognition, Imperforate anus, Limb-Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Macrocephaly, Macroglossia, Malignant Neoplasm, Meningoencephalocele, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Microtia, Motor delay, Muscle Eye Brain Disease, Muscular Dystrophy-Dystroglycanopathy, Myopathy, Myopia, Neuronal Heterotopia, Occipital Encephalocele, Optic Atrophy, Pachygyria, Penis Agenesis, Polymicrogyria, Posteriorly Rotated Ear, Renal dysplasia, Respiratory Failure, Retinal Detachment, Retinal Dysplasia, Retinal Dystrophy, Retinitis Pigmentosa, Scoliosis, Specific Learning Disorder, Speech Disorders, Spinocerebellar ataxia, Strabismus, Submucosal cleft palate, Syndromic microphthalmia, Urinary bladder neoplasms, Ventricular dysfunction, Ventricular Systolic Dysfunction, Von willebrand disorder, Walker-Warburg Congenital Muscular Dystrophy, Walker-Warburg Syndrome