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Boli A-Z 18p Deletion Syndrome 47, Xxy Acalvaria Acquired Schizencephaly Adie Pupil Aging Agnathia-Otocephaly Complex Aicardi Syndrome Alacrima, Achalasia, and Mental Retardation Syndrome Al-Gazali-Bakalinova Syndrome Alobar Holoprosencephaly Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alport Syndrome, X-Linked Al-Raqad Syndrome Amphetamine Abuse Androgen Insensitivity Syndrome, Mild Anencephaly Aniridia 1 Anorexia Nervosa 1 Anus, Imperforate Aortopulmonary Window Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect Baraitser-Winter Syndrome 1 Bardet-Biedl Syndrome 17 Basal Cell Nevus Syndrome Blood Group--Ahonen 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 Branchial Arch Defects Brittle Bone Disorder Calcifying Epithelial Odontogenic Tumor Carpenter Syndrome 1 Cephalic Disorders Cerebellar Hypoplasia Cerebritis Cervicitis Chiari Malformation Choanal Atresia, Posterior Chorea, Childhood-Onset, with Psychomotor Retardation Choreatic Disease Choroiditis Chromosomal Triplication Chromosome 13q Duplication Chromosome 18p Deletion Syndrome Chromosome 21q Duplication Chromosome 3p Duplication Chromosome 8p Deletion Classic Phenylketonuria Cleft Lip Cleft Lip/palate Cleidocranial Dysplasia Congenital Disorder of Glycosylation, Type Iic Congenital Nervous System Abnormality Craniosynostosis Currarino Syndrome Cystic Fibrosis Diabetes Insipidus Diabetes Mellitus Distal Trisomy 3p Down Syndrome Duodenal Obstruction Dysgnathia Complex Ectodermal Dysplasia Ectopia Cordis Encephalocele Epilepsy Esophageal Atresia Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome Fanconi Anemia, Complementation Group E Fanconi Renotubular Syndrome 1 Fanconi Syndrome Fetal Aminopterin Syndrome Fraser Syndrome 1 Frontonasal Dysplasia 1 Gangliocytoma Gestational Diabetes Greig Cephalopolysyndactyly Syndrome Hair Whorl Hartsfield Syndrome Hepatic Adenomas, Familial Heterotaxy Histiocytosis Holoprosencephaly 1 Holoprosencephaly 2 Holoprosencephaly 3 Holoprosencephaly 4 Holoprosencephaly 5 Holoprosencephaly 6 Holoprosencephaly 7 Holoprosencephaly 8 Holoprosencephaly, Recurrent Infections, and Monocytosis Holoprosencephaly, Semilobar, with Craniosynostosis Hydranencephaly Hydrocephalus Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Hydrolethalus Syndrome 1 Hydrops Fetalis Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect Hypertelorism Hypopituitarism Hypotrichosis Hypotrichosis Simplex Immunoglobulin E Concentration, Serum Infratentorial Cancer Iniencephaly Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies Isodicentric Chromosome 15 Syndrome Jacobsen Syndrome Kallmann Syndrome Lambotte Syndrome Langerhans Cell Histiocytosis Laurin-Sandrow Syndrome Limb Reduction Defect Lipoid Proteinosis of Urbach and Wiethe Lissencephaly Lobar Holoprosencephaly Lymphoid Interstitial Pneumonia Microcephaly Microform Holoprosencephaly Microphthalmia Midline Interhemispheric Variant of Holoprosencephaly Miyoshi Muscular Dystrophy 1 Moebius Syndrome Momo Syndrome Monosomy 7 of Bone Marrow Mosaic Trisomy 9 Narcolepsy Neural Tube Defects Neural Tube Defects, Folate-Sensitive Neuronal Migration Disorders Neuronitis Nonsyndromic Holoprosencephaly Occipital Encephalocele Omphalocele Orofacial Cleft Pallister-Hall Syndrome Patau Syndrome Penis Agenesis Persistent Hyperplastic Primary Vitreous, Autosomal Recessive Phenylketonuria Physical Disorder Pituitary Hormone Deficiency, Combined, 2 Pituitary Hypoplasia Pituitary Stalk Interruption Syndrome Polycystic Kidney Disease Polydactyly Polykaryocytosis Inducer Polymicrogyria Proboscis Lateralis Pseudotrisomy 13 Syndrome Pseudovaginal Perineoscrotal Hypospadias Pure Red-Cell Aplasia Rapp-Hodgkin Syndrome Retinitis Rhombencephalosynapsis Ring Chromosome 21 Ring Chromosome 7 Sacral Defect with Anterior Meningocele Schizencephaly Seckel Syndrome Semilobar Holoprosencephaly Septopreoptic Holoprosencephaly Sirenomelia Situs Inversus Smith-Lemli-Opitz Syndrome Solitary Median Maxillary Central Incisor Spastic Diplegia Spasticity Spina Bifida Occulta Split Hand Spondyloocular Syndrome Status Epilepticus Steinfeld Syndrome Syndrome of Inappropriate Antidiuretic Hormone Synovial Chondromatosis Teratoma Tetralogy of Fallot Thanatophoric Dysplasia, Type Ii Tooth Size Triploidy Trisomy 22 West Syndrome