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Boli A-Z 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 9q22.3 Microdeletion Acalvaria Acanthosis Nigricans Achondroplasia Adermatoglyphia Agammaglobulinemia Aging Alacrima, Achalasia, and Mental Retardation Syndrome Alagille Syndrome 1 Alobar Holoprosencephaly Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alport Syndrome, X-Linked Al-Raqad Syndrome Aneurysm Aniridia 1 Anisometropia Ankylosis Anorexia Nervosa 1 Antley-Bixler Syndrome Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis Aortic Aneurysm Apert Syndrome Arthrochalasia Ehlers-Danlos Syndrome Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Ataxia Neuropathy Spectrum Aurocephalosyndactyly Autosomal Dominant Disease Baller-Gerold Syndrome Baraitser-Winter Syndrome 1 Basal Cell Nevus Syndrome Beare-Stevenson Cutis Gyrata Syndrome Bleeding Disorder, Platelet-Type, 11 Blood Group--Ahonen Blood Group, Dombrock System Blood Group, I System Bone Development Disease Bone Fracture Brachydactyly Buschke-Ollendorff Syndrome Cantu Syndrome Cataract Cataract 5, Multiple Types Cdags Syndrome Central Sleep Apnea Cerebritis Cherubism Chiari Malformation Chiari Malformation Type I Choanal Atresia, Posterior Chromosomal Triplication Chromosome 2p16.1-P15 Deletion Syndrome Chromosome 2q35 Duplication Syndrome Chromosome 6p Duplication Ciliopathy Cleft Lip Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Congenital Torticollis Conjunctivitis Corpus Callosum, Agenesis of, with Abnormal Genitalia Craniofacial Dyssynostosis Craniofacial Dyssynostosis with Short Stature Craniomicromelic Syndrome Craniosynostosis 1 Craniosynostosis 2 Craniosynostosis 7 Craniosynostosis, Adelaide Type Craniosynostosis Philadelphia Type Craniosynostosis with Ectopia Lentis Crouzon Syndrome Crouzon Syndrome with Acanthosis Nigricans Deafness, Autosomal Recessive 51 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome Dermatitis Dwarfism Dysostosis Elastoma Ellis-Van Creveld Syndrome Encephalocele Epilepsy Factor Vii Deficiency Familial Thoracic Aortic Aneurysm and Dissection Fanconi Anemia, Complementation Group E Fgfr-Related Craniosynostosis Syndromes Frank-Ter Haar Syndrome Galactosialidosis Gapo Syndrome Gastroschisis Glass-Chapman-Hockley Syndrome Glaucoma-Related Pigment Dispersion Syndrome Glioblastoma Hartsfield Syndrome Headache Helix Syndrome Hennekam Lymphangiectasia-Lymphedema Syndrome 1 Hennekam Syndrome Holoprosencephaly Holoprosencephaly, Semilobar, with Craniosynostosis Humeroradial Synostosis Hydrocephalus Hydrops, Lactic Acidosis, and Sideroblastic Anemia Hyper Ige Syndrome Hyperostosis Hypertelorism Hypertelorism, Teebi Type Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Hyperthyroidism Hypertrichosis Hypochondroplasia Hypophosphatasia Hypospadias Idiopathic Hemiconvulsion-Hemiplegia Syndrome Immunoglobulin E Concentration, Serum Intracranial Hypertension Intracranial Hypotension Isolated Brachycephaly Isolated Growth Hormone Deficiency, Type Ia Isolated Plagiocephaly Isolated Scaphocephaly Isolated Trigonocephaly Jackson-Weiss Syndrome Jacobsen Syndrome Klippel-Feil Syndrome Lacrimoauriculodentodigital Syndrome Lambdoid Synostosis Larsen Syndrome Laryngeal Cleft Laryngomalacia Learning Disability Lentigines Lin-Gettig Syndrome Lubinsky Syndrome Mass Syndrome Meier-Gorlin Syndrome 1 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii Microcephaly Microcephaly 1, Primary, Autosomal Recessive Microphthalmia, Syndromic 2 Monosomy 9q22.3 Mosaic Variegated Aneuploidy Syndrome 1 Mowat-Wilson Syndrome Mucopolysaccharidosis-Plus Syndrome Muenke Syndrome Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects Myopathy Myotonic Dystrophy Nasopharyngitis Neonatal Thyrotoxicosis Neural Tube Defects Neural Tube Defects, Folate-Sensitive Neurodegeneration with Brain Iron Accumulation 2a Noonan Syndrome with Multiple Lentigines Omphalocele Opitz Gbbb Syndrome, Type I Opitz Gbbb Syndrome, Type Ii Optic Papillitis Osseous Heteroplasia, Progressive Osteochondroma Osteoglophonic Dysplasia Osteopetrosis Papilledema Parietal Foramina Parietal Foramina with Cleidocranial Dysplasia Patau Syndrome Periodontitis Periventricular Nodular Heterotopia Pfeiffer Syndrome Phelan-Mcdermid Syndrome Pityriasis Rosea Plagiocephaly Pleuropulmonary Blastoma Polydactyly Polyhydramnios Polykaryocytosis Inducer Polymicrogyria Porokeratosis Prostatitis Proteus Syndrome Proximal Symphalangism Pseudohypoparathyroidism Pycnodysostosis Radioulnar Synostosis Ramer Ladda Syndrome Rhombencephalosynapsis Rickets Roberts Syndrome Robinow-Sorauf Syndrome Saethre-Chotzen Syndrome Samson Gardner Syndrome Seckel Syndrome Semilobar Holoprosencephaly Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Shprintzen-Goldberg Craniosynostosis Syndrome Simpson-Golabi-Behmel Syndrome Sinusitis Skeletal Dysplasias Sleep Apnea Sleep Disorder Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations Spondyloocular Syndrome Strabismus Synostosis Synovial Chondromatosis Tarsal Coalition Teeth, Supernumerary Telecanthus Tetanus Thanatophoric Dysplasia, Type I Three M Syndrome 1 Thyroiditis Torticollis Velocardiofacial Syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome Zygodactyly 1