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1 | What is (are) autosomal recessive primary microcephaly ? |
1 | What is (are) autosomal recessive spastic ataxia of Charlevoix-Saguenay ? |
1 | What is (are) Axenfeld-Rieger syndrome ? |
1 | What is (are) Baller-Gerold syndrome ? |
1 | What is (are) Bannayan-Riley-Ruvalcaba syndrome ? |
1 | What is (are) Baraitser-Winter syndrome ? |
1 | What is (are) Bardet-Biedl syndrome ? |
1 | What is (are) Bart-Pumphrey syndrome ? |
1 | What is (are) Barth syndrome ? |
1 | What is (are) Bartter syndrome ? |
1 | What is (are) Beare-Stevenson cutis gyrata syndrome ? |
1 | What is (are) Beckwith-Wiedemann syndrome ? |
1 | What is (are) Behet disease ? |
1 | What is (are) benign chronic pemphigus ? |
1 | What is (are) benign essential blepharospasm ? |
1 | What is (are) benign familial neonatal seizures ? |
1 | What is (are) benign recurrent intrahepatic cholestasis ? |
1 | What is (are) beta thalassemia ? |
1 | What is (are) beta-ketothiolase deficiency ? |
1 | What is (are) beta-mannosidosis ? |
1 | What is (are) beta-ureidopropionase deficiency ? |
1 | What is (are) Bietti crystalline dystrophy ? |
1 | What is (are) biotin-thiamine-responsive basal ganglia disease ? |
1 | What is (are) biotinidase deficiency ? |
1 | What is (are) Birt-Hogg-Dub syndrome ? |
1 | What is (are) Bjrnstad syndrome ? |
1 | What is (are) bladder cancer ? |
1 | What is (are) Blau syndrome ? |
1 | What is (are) blepharophimosis, ptosis, and epicanthus inversus syndrome ? |
1 | What is (are) Bloom syndrome ? |
1 | What is (are) boomerang dysplasia ? |
1 | What is (are) Bowen-Conradi syndrome ? |
1 | What is (are) bradyopsia ? |
1 | What is (are) branchio-oculo-facial syndrome ? |
1 | What is (are) branchiootorenal/branchiootic syndrome ? |
1 | What is (are) breast cancer ? |
1 | What is (are) Brody myopathy ? |
1 | What is (are) Brooke-Spiegler syndrome ? |
1 | What is (are) Brugada syndrome ? |
1 | What is (are) Buschke-Ollendorff syndrome ? |
1 | What is (are) C3 glomerulopathy ? |
1 | What is (are) Caffey disease ? |
1 | What is (are) campomelic dysplasia ? |
1 | What is (are) Camurati-Engelmann disease ? |
1 | What is (are) Canavan disease ? |
1 | What is (are) Cant syndrome ? |
1 | What is (are) cap myopathy ? |
1 | What is (are) capillary malformation-arteriovenous malformation syndrome ? |
1 | What is (are) carbamoyl phosphate synthetase I deficiency ? |
1 | What is (are) cardiofaciocutaneous syndrome ? |
1 | What is (are) Carney complex ? |
1 | What is (are) carnitine palmitoyltransferase I deficiency ? |
1 | What is (are) carnitine palmitoyltransferase II deficiency ? |
1 | What is (are) carnitine-acylcarnitine translocase deficiency ? |
1 | What is (are) Carpenter syndrome ? |
1 | What is (are) cartilage-hair hypoplasia ? |
1 | What is (are) CASK-related intellectual disability ? |
1 | What is (are) catecholaminergic polymorphic ventricular tachycardia ? |
1 | What is (are) CATSPER1-related nonsyndromic male infertility ? |
1 | What is (are) caudal regression syndrome ? |
1 | What is (are) CAV3-related distal myopathy ? |
1 | What is (are) celiac disease ? |
1 | What is (are) central core disease ? |
1 | What is (are) centronuclear myopathy ? |
1 | What is (are) cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? |
1 | What is (are) cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? |
1 | What is (are) cerebral cavernous malformation ? |
1 | What is (are) cerebrotendinous xanthomatosis ? |
1 | What is (are) Chanarin-Dorfman syndrome ? |
1 | What is (are) Char syndrome ? |
1 | What is (are) Charcot-Marie-Tooth disease ? |
1 | What is (are) CHARGE syndrome ? |
1 | What is (are) Chediak-Higashi syndrome ? |
1 | What is (are) cherubism ? |
1 | What is (are) childhood myocerebrohepatopathy spectrum ? |
1 | What is (are) CHMP2B-related frontotemporal dementia ? |
1 | What is (are) cholesteryl ester storage disease ? |
1 | What is (are) CHOPS syndrome ? |
1 | What is (are) chordoma ? |
1 | What is (are) chorea-acanthocytosis ? |
1 | What is (are) choroideremia ? |
1 | What is (are) Christianson syndrome ? |
1 | What is (are) chronic atrial and intestinal dysrhythmia ? |
1 | What is (are) chronic granulomatous disease ? |
1 | What is (are) CHST3-related skeletal dysplasia ? |
1 | What is (are) chylomicron retention disease ? |
1 | What is (are) citrullinemia ? |
1 | What is (are) cleidocranial dysplasia ? |
1 | What is (are) Clouston syndrome ? |
1 | What is (are) Coats plus syndrome ? |
1 | What is (are) Cockayne syndrome ? |
1 | What is (are) Coffin-Lowry syndrome ? |
1 | What is (are) Coffin-Siris syndrome ? |
1 | What is (are) COG5-congenital disorder of glycosylation ? |
1 | What is (are) Cohen syndrome ? |
1 | What is (are) COL4A1-related brain small-vessel disease ? |
1 | What is (are) cold-induced sweating syndrome ? |
1 | What is (are) Cole disease ? |
1 | What is (are) collagen VI-related myopathy ? |
1 | What is (are) coloboma ? |
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