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Boli A-Z Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alpha-Fetoprotein Deficiency Alport Syndrome, X-Linked Al-Raqad Syndrome Aniridia 1 Anorexia Nervosa 1 Arthrochalasia Ehlers-Danlos Syndrome Asphyxiating Thoracic Dystrophy Bardet-Biedl Syndrome Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 2 Blood Group--Ahonen Blood Group, Dombrock System Caroli Disease Ciliopathy Coach Syndrome Cogan Syndrome Congenital Hepatic Fibrosis Corpus Callosum, Agenesis of, with Abnormal Genitalia Cystic Kidney Disease Encephalocele Fanconi Anemia, Complementation Group E Hepatitis Hydrolethalus Syndrome 1 Hyperuricemic Nephropathy, Familial Juvenile, 1 Joubert Syndrome 1 Joubert Syndrome with Ocular Anomalies Joubert Syndrome with Oculorenal Anomalies Joubert Syndrome with Renal Anomalies Leber Congenital Amaurosis Malignant Spiradenoma Mckusick-Kaufman Syndrome Meckel Syndrome, Type 3 Menkes Disease Mulibrey Nanism Nephronophthisis Nephronophthisis 1 Nephronophthisis 16 Nephronophthisis 2 Nephronophthisis 4 Neural Tube Defects Neural Tube Defects, Folate-Sensitive Occipital Encephalocele Oligohydramnios Orofaciodigital Syndrome Orofaciodigital Syndrome I Orofaciodigital Syndrome Vi Polycystic Kidney Disease 4 with or Without Hepatic Disease Polydactyly Retinitis Pigmentosa 23 Senior-Løken Syndrome Senior-Loken Syndrome 1 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly Smith-Lemli-Opitz Syndrome Spastic Ataxia, Charlevoix-Saguenay Type Tetraamelia Syndrome, Autosomal Recessive Tuberous Sclerosis