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Boli A-Z Aging Alacrima, Achalasia, and Mental Retardation Syndrome Albinism Albinism, Oculocutaneous, Type Ii Alpha-Fetoprotein Deficiency Alport Syndrome, X-Linked Al-Raqad Syndrome Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 Aniridia 1 Anorexia Nervosa 1 Aortic Valve Disease 2 Arthrochalasia Ehlers-Danlos Syndrome Ataxia and Polyneuropathy, Adult-Onset Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Autism Autism Spectrum Disorder Blood Group--Ahonen Blood Group, Dombrock System Blood Group, I System 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 Cdkl5-Related Disorder Cerebellar Atrophy, Developmental Delay, and Seizures Cerebritis Childhood Absence Epilepsy Childhood Electroclinical Syndrome Christianson Syndrome Chromosomal Disease Chromosomal Triplication Chromosome 15q11-Q13 Duplication Syndrome Chromosome 15q Deletion Chromosome 15q Duplication Cleft Lip Down Syndrome Encephalopathy Epilepsy Focal Epilepsy Fragile X Syndrome Gurrieri Syndrome Hepatic Adenomas, Familial Hepatitis Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 Hypertonia Hypomelanosis of Ito Hypomelanotic Disorder Hypotonia Isodicentric Chromosome 15 Syndrome Isovaleric Acidemia Lennox-Gastaut Syndrome Microcephaly Mosaic Variegated Aneuploidy Syndrome 1 Multiple Mitochondrial Dysfunctions Syndrome 5 Muscular Dystrophy Myoclonus Neuronitis Nondisjunction Oculocutaneous Albinism Pervasive Developmental Disorder Phenylketonuria Pitt-Hopkins Syndrome Prader-Willi Syndrome Prader-Willi Syndrome Due to Imprinting Mutation Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 Precocious Puberty Rett Syndrome Scoliosis Sleep Disorder Spastic Diplegia Spasticity Spondyloarthropathy 1 Status Epilepticus Thyroiditis Tremor Tyrosinemia Undifferentiated Pleomorphic Sarcoma