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Boli A-Z 13q12.3 Microdeletion Syndrome 3-Methylglutaconic Aciduria 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 47,xyy 5-Oxoprolinase Deficiency Achalasia Achalasia-Microcephaly Syndrome Acrofacial Dysostosis Adams-Oliver Syndrome Adenylosuccinase Deficiency Adie Pupil Agammaglobulinemia Aging Alacrima, Achalasia, and Mental Retardation Syndrome Alobar Holoprosencephaly Alopecia Alopecia Universalis Congenita Alport Syndrome, X-Linked Al-Raqad Syndrome Alzheimer Disease 19 Androgen Insensitivity Syndrome, Mild Anencephaly Aneurysm Angelman Syndrome Angel-Shaped Phalangoepiphyseal Dysplasia Aniridia 1 Anonychia, Total, with Microcephaly Anorexia Nervosa 1 Aplasia Cutis Congenita Appendicitis Apraxia Aromatic Alpha-Keto Acid Reductase Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect Asparagine Synthetase Deficiency Ataxia and Polyneuropathy, Adult-Onset Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Ataxia-Microcephaly-Cataract Syndrome Ataxia-Telangiectasia Athetosis Attention Deficit-Hyperactivity Disorder Autism Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome Autosomal Recessive Non-Syndromic Intellectual Disability Autosomal Recessive Primary Microcephaly Axonal Neuropathy Ayme-Gripp Syndrome Bainbridge-Ropers Syndrome Baraitser-Winter Syndrome Blepharochalasis Blepharophimosis Blepharophimosis, Ptosis, and Epicanthus Inversus Blood Group--Ahonen Blood Group, Dombrock System Blood Group, I System Body Dysmorphic Disorder Body Mass Index Quantitative Trait Locus 10 Body Mass Index Quantitative Trait Locus 11 Body Mass Index Quantitative Trait Locus 12 Body Mass Index Quantitative Trait Locus 14 Body Mass Index Quantitative Trait Locus 18 Body Mass Index Quantitative Trait Locus 4 Body Mass Index Quantitative Trait Locus 7 Body Mass Index Quantitative Trait Locus 8 Body Mass Index Quantitative Trait Locus 9 Bone Fracture Bone Mineral Density Quantitative Trait Locus 15 Bone Mineral Density Quantitative Trait Locus 8 Bowen-Conradi Syndrome Brachydactyly Brachymorphism-Onychodysplasia-Dysphalangism Syndrome Brain Injury Branchiootic Syndrome 1 Canavan Disease Cataract Cerebellar Atrophy, Developmental Delay, and Seizures Cerebellar Hypoplasia Cerebral Palsy Cerebritis Choanal Atresia, Posterior Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction Chorioretinitis Chromosomal Triplication Chromosome 16p13.3 Deletion Syndrome, Proximal Chromosome 3p Deletion Chromosome 3p Duplication Chromosome 5q Duplication Chromosome 6p Duplication Chromosome 7p Duplication Chromosome 8p23.1 Deletion Ciliary Dyskinesia, Primary, 1 Ciliopathy Citrullinemia, Classic Cleft Lip Cleft Lip/palate Cocaine Antenatal Exposure Cohen Syndrome Coloboma of Macula with Type B Brachydactyly Colobomatous Microphthalmia Colpocephaly Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy Congenital Contractures Congenital Cytomegalovirus Congenital Intrauterine Infection-Like Syndrome Congenital Lymphedema Congenital Myasthenic Syndrome Congenital Nervous System Abnormality Congenital Ptosis Congenital Toxoplasmosis Congenital Zika Syndrome Corneal Dystrophy Corneal Dystrophy, Thiel-Behnke Type Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia Cortical Dysplasia, Complex, with Other Brain Malformations 7 Coxa Vara Craniosynostosis Cutaneous Mastocytosis Cutis Laxa Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Verticis Gyrata Cyanosis, Transient Neonatal Cytomegalovirus Infection Dacryocystitis Dermatitis Desmosterolosis Diabetes Mellitus Diarrhea Diffuse Mesangial Sclerosis Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation Distal Trisomy 3p Distichiasis Dobrow Syndrome Down Syndrome Duodenal Atresia Duodenitis Dwarfism Dyskeratosis Congenita Dysostosis Dystonia Ectodermal Dysplasia Encephalocele Encephalopathy Epicanthus Epilepsy Epilepsy, Pyridoxine-Dependent Epileptic Encephalopathy, Early Infantile, 15 Epileptic Encephalopathy, Early Infantile, 7 Epiphyseal Dysplasia, Microcephaly, and Nystagmus Esophageal Atresia Exophthalmos Exudative Vitreoretinopathy Faciocardiomelic Syndrome Fanconi Anemia, Complementation Group E Fetal Alcohol Syndrome Fetal Brain Disruption Sequence Filippi Syndrome Floating-Harbor Syndrome Focal Segmental Glomerulosclerosis Foxg1 Syndrome Galloway-Mowat Syndrome Gastroenteritis Gingival Hypertrophy Gingivitis Glioma Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies Glomuvenous Malformations Goldberg-Shprintzen Syndrome Gombo Syndrome Gonadal Dysgenesis Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Heart Septal Defect Hemangioendothelioma Hemimegalencephaly Hemiplegia Hepatic Adenomas, Familial Holoprosencephaly Holt-Oram Syndrome Hydranencephaly Hydrocephalus Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 Hydronephrosis Hydrops Fetalis Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect Hydrops, Lactic Acidosis, and Sideroblastic Anemia Hyperekplexia Hyperinsulinemic Hypoglycemia Hyperphenylalaninemia Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Hypertonia Hypoglycemia Hypogonadism Hypogonadotropic Hypogonadism Hypogonadotropism Hypomelanotic Disorder Hypomyelinating Leukodystrophy Hypopituitarism Hypoplastic Left Heart Syndrome Hypotonia Ichthyosis Ichthyosis Prematurity Syndrome Intellectual Deficit Buenos-Aires Type Intestinal Atresia Intrauterine Infections Isolated Growth Hormone Deficiency, Type Ia Jawad Syndrome Jejunal Atresia Jorgenson Lenz Syndrome Lambotte Syndrome Laryngeal Cleft Laryngitis Laryngomalacia Learning Disability Leukodystrophy Lig4 Syndrome Lissencephaly Lymphadenitis Lymphedema Lymphoblastic Leukemia, Acute, with Lymphomatous Features Lymphocytic Choriomeningitis Lymphoma Macroglossia Malignant Glioma Malignant Migrating Partial Seizures of Infancy Mandibulofacial Dysostosis, Guion-Almeida Type Mast Cell Activation Syndrome Maternal Hyperphenylalaninemia Measles Mehmo Syndrome Meningitis Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia Mental Retardation, Autosomal Recessive 40 Mental Retardation, X-Linked, Syndromic 9 Metatarsus Adductus Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii Microcephaly 1, Primary, Autosomal Recessive Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations Microcephaly 3, Primary, Autosomal Recessive Microcephaly 4, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive Microcephaly 6, Primary, Autosomal Recessive Microcephaly, Amish Type Microcephaly, Autosomal Dominant Microcephaly-Capillary Malformation Syndrome Microcephaly-Cardiomyopathy Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate Microcephaly, Epilepsy, and Diabetes Syndrome Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance Microcephaly Microcornea Syndrome Seemanova Type Microcephaly-Micromelia Syndrome Microcephaly Nonsyndromal Microcephaly, Seizures, and Developmental Delay Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation Microcephaly with Simplified Gyral Pattern Microhydranencephaly Microlissencephaly Microphthalmia Microphthalmia, Syndromic 8 Microtia Mitochondrial Disorders Moebius Syndrome Mosaic Trisomy 7 Mosaic Variegated Aneuploidy Syndrome Mowat-Wilson Syndrome Multiple Epiphyseal Dysplasia Multiple Sulfatase Deficiency Muscular Dystrophy Myopathy Nail Disorder, Nonsyndromic Congenital, 4 Nephrotic Syndrome Neuraminidase Deficiency Neuronitis Neuropathy Nijmegen Breakage Syndrome Non-Syndromic Intellectual Disability Occipital Encephalocele Oliver Syndrome Oral Squamous Cell Carcinoma Osteopetrosis Pachygyria Paine Syndrome Pancreatitis, Hereditary Pancytopenia Papillon-Lefevre Syndrome Paraplegia Pelizaeus-Merzbacher Disease Penis Agenesis Peters-Plus Syndrome Phenylketonuria Phosphoglycerate Dehydrogenase Deficiency Polydactyly Polymicrogyria Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 4 Postaxial Acrofacial Dysostosis Potocki-Lupski Syndrome Premature Centromere Division Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders Primary Lateral Sclerosis, Adult, 1 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome Ptosis Pulmonary Hypertension Quadriplegia Radioulnar Synostosis Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation Rajab Syndrome Ramer Ladda Syndrome Renal Dysplasia Renal Tubular Dysgenesis Renpenning Syndrome 1 Retinal Degeneration Retinal Detachment Retinitis Retinitis Pigmentosa Rett Syndrome Ring Chromosome 12 Ring Chromosome 13 Ring Chromosome 2 Ring Chromosome 8 Rubella Samson Gardner Syndrome Say Syndrome Schizophrenia Scoliosis Seckel Syndrome Seckel Syndrome 5 Secretory Diarrhea Seizure Disorder Senior-Løken Syndrome Sensorineural Hearing Loss Serine Deficiency Serpin Peptidase Inhibitor, Clade a, Member 2, Pseudogene Severe Combined Immunodeficiency Skin Tag Sotos Syndrome 1 Spastic Cerebral Palsy Spastic Diplegia Spasticity Spastic Paraparesis Spastic Quadriplegia Speech Disorder Split Foot Spondyloocular Syndrome Squamous Cell Carcinoma Strabismus Syndromic Intellectual Disability Syngnathia Synostosis Teebi Kaurah Syndrome Tetralogy of Fallot Three M Syndrome 1 Thrombosis Thyroiditis Tongue Cancer Toxoplasmoză Tracheoesophageal Fistula Tremor Trichodental Dysplasia Tubulinopathies Ulnar Hypoplasia Vaginitis Ventricular Septal Defect Walker-Warburg Syndrome Warburg Micro Syndrome 1 West Syndrome Wilms Tumor 6 Woods Syndrome X-Linked Intellectual Disability, Najm Type Yemenite Deaf-Blind Hypopigmentation Syndrome Young Syndrome Zerres Rietschel Majewski Syndrome Zika Virus Infection