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  1. Bagatelle Cassidy syndrome
  2. Baker Vinters syndrome
  3. Baksbat (broken courage) or Cambodian trauma syndrome [1]
  4. Baraitser Brett Piesowicz syndrome aka Pseudo-TORCH syndrome [2], OMIM had a page ([3]) but redirects it to [4]. The 3 authors have published about that one but not sure whether their names is a notable synonum of that disease.
  5. Baraitser Rodeck Garner syndrome [5], [6]
  6. Barnicoat Baraitser syndrome
  7. Barrow Fitzsimmons syndrome
  8. Basal cell nevus anodontia abnormal bone mineralization
  9. Basaran Yilmaz syndrome [7]
  10. Basedow's coma [8]
  11. Battaglia Neri syndrome [9]
  12. Bazopoulou Kyrkanidou syndrome aka Craniofaciocervical osteoglyphic dysplasia
  13. Beemer Ertbruggen syndrome [10], [11]
  14. Behrens Baumann Dust syndrome [12]
  15. Bellini Chiumello Rinoldi syndrome --Mispelling of--> Bellini Chiumello Rimoldi syndrome [13] as shown here: [14] (see author's name).
  16. Ben Ari Shuper Mimouni syndrome [15]
  17. Benallegue Lacete syndrome [16]
  18. Bencze syndrome aka Hemifacial hyperplasia strabismus [17]
  19. Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification - [18], [19]
  20. Bidirectional tachycardia - [20]
  21. Biliary hypoplasia [21]
  22. Billard Toutain Maheut syndrome aka Familial developmental dysphasia, FOXP2-associated dysphasia
  23. Billet Bear syndrome [22]
  24. Bindewald Ulmer Muller syndrome [23], [24] Fallot complex
  25. Bixler Christian Gorlin syndrome aka HMC syndrome [25], [26]
  26. Blaichman syndrome [27]
  27. Blepharo cheilo dontic syndrome aka BCD syndrome, Blepharocheilodontic syndrome Elschnig syndrome [28], [29]
  28. Blepharo facio skeletal syndrome [30]
  29. Blepharoptosis aortic anomaly [31] (Main article is in Ptosis (eyelid)
  30. Blepharoptosis cleft palate ectrodactyly dental anomalies [32]
  31. Blethen Wenick Hawkins syndrome [33]
  32. BOD syndrome --Short for--> Brachymorphism-onychodysplasia-dysphalangism syndrome [34]
  33. Bone dysplasia corpus callosum agenesis [35]
  34. Bone dysplasia lethal Holmgren type [36]
  35. Bone dysplasia Moore type [37]
  36. Bone marrow failure neurologic abnormalities
  37. Bonneau-Beaumont syndrome [38]
  38. Bonneman Meinecke Reich syndrome [39]
  39. Book syndrome --also known as--> PHC syndrome or Premolar aplasia, hyperhidrosis, and canities prematura syndrome [40]
  40. Bork Stender Schmidt syndrome
  41. Boscherini Galasso Manca Bitti syndrome [41]
  42. Boylan Dew Greco syndrome [42]
  43. Brachioskeletogenital syndrome --also known as--> BSG syndrome [43]
  44. Brachycephalofrontonasal dysplasia
  45. Brachydactylous dwarfism Mseleni type
  46. Brachydactyly anonychia
  47. Brachydactyly dwarfism mental retardation
  48. Brachydactyly mesomelia mental retardation heart defects
  49. Brachydactyly scoliosis carpal fusion
  50. Brachydactyly small stature face anomalies
  51. Brachydactyly tibial hypoplasia
  52. Brachymesomelia renal syndrome
  53. Brachymetapody anodontia hypotrichosis albinoidism
  54. Brachymorphism onychodysplasia dysphalangism syndrome
  55. Brachyolmia recessive Hobaek type
  56. Brachyolmia
  57. Braddock Carey syndrome
  58. Brunoni syndrome
  59. Bullous dystrophy macular type
  60. Burn Goodship syndrome
  61. CAHMR syndrome
  62. Calloso genital dysplasia
  63. Calvarial hyperostosis
  64. Campomelia Cumming type
  65. Camptodactyly fibrous tissue hyperplasia skeletal dysplasia
  66. Camptodactyly joint contractures facial skeletal dysplasia
  67. Camptodactyly syndrome Guadalajara type 1
  68. Camptodactyly syndrome Guadalajara type 2
  69. Camptodactyly vertebral fusion
  70. Cantalamessa Baldini Ambrosi syndrome
  71. Caratolo Cilio Pessagno syndrome
  72. Carbon baby syndrome
  73. Cardioauditory syndrome of Sanchez- Cascos
  74. Cardioauditory syndrome
  75. Cardiofacial syndrome short limbs
  76. Cardiomelic syndrome Stratton Koehler type
  77. Cardiomyopathy cataract hip spine disease
  78. Cardiomyopathy, fatal fetal, due to myocardial calcification
  79. Cardiomyopathy, X linked, fatal infantile
  80. Carpal deformity migrognathia microstomia
  81. Carpenter Hunter type
  82. Carpotarsal osteochondromatosis
  83. Cataract aberrant oral frenula growth retardation
  84. Cataract anterior polar dominant
  85. Cataract congenital Volkmann type
  86. Cataract congenital with microphthalmia
  87. Cataract Hutterite type
  88. Cataract hypertrichosis mental retardation
  89. Cataract mental retardation hypogonadism
  90. Cataract skeletal anomalies
  91. Cataract,congenital ichthyosis
  92. Cataract-glaucoma
  93. Caudal appendage deafness
  94. Ccge syndrome
  95. CDK4 linked melanoma
  96. Cecato De lima Pinheiro syndrome
  97. Celiac disease epilepsy occipital calcifications
  98. Cennamo Gangemi syndrome
  99. Cerebellar ataxia ectodermal dysplasia
  100. Cerebellar hypoplasia endosteal sclerosis
  101. Cerebellar hypoplasia tapetoretinal degeneration
  102. Cerebellar parenchymal degeneration
  103. Cerebelloparenchymal disorder 3
  104. Cerebellum agenesis hydrocephaly
  105. Cerebral calcification cerebellar hypoplasia
  106. Cerebral calcifications opalescent teeth phosphaturia
  107. Cerebral malformations hypertrichosis claw hands
  108. Cerebral ventricle neoplasm
  109. Cerebro oculo dento auriculo skeletal syndrome -AKA: CODAS syndrome (from [44] and [45]
  110. Cerebro oculo genital syndrome -AKA: Duker-Weiss-Siber syndrome (from [46]).
  111. Cerebro oculo skeleto renal syndrome -AKA: Silengo-Lerone-Pelizzo syndrome (from [47]).
  112. Cerebroarthrodigital syndrome -[48][49]
  113. Cervical hypertrichosis neuropathy [50] [51] (same linking as one below?)
  114. Cervical hypertrichosis peripheral neuropathy [52] [53]
  115. Cervical ribs sprengel anomaly polydactyly [54] [55]
  116. Charles' Disease
  117. Charlie M syndrome [56]
  118. Chemke Oliver Mallek syndrome [57]
  119. Chitayat Haj Chahine syndrome
  120. Chitayat Moore Del Bigio syndrome [58]
  121. Chitty Hall Baraitser syndrome [59] [60]
  122. Chitty Hall Webb syndrome [61] [62]
  123. Chlamydial and Gonococcal Conjunctivitis
  124. Choanal atresia deafness cardiac defects dysmorphia [63]
  125. Choledochal cyst, hand malformation [64]
  126. Cholestasis pigmentary retinopathy cleft palate is it referring to Hardikar syndrome? [65]
  127. Chondrodysplasia lethal recessive or Recessive lethal chondrodysplasia [66]
  128. Chondrodysplasia pseudohermaphrodism syndrome --also known as-->Pseudohermaphrodism and chondrodysplasia,[[67]] [68]
  129. Chondrodysplasia punctata with steroid sulfatase deficiency
  130. Chondrodysplasia situs inversus imperforate anus polydactyly [69]
  131. Chondromatosis (benign)
  132. Chondrodysplasia punctata, humero-metacarpal type [70][71]
  133. Choreoacanthocytosis amyotrophic [72], [73]
  134. Chorioretinopathy dominant form microcephaly
  135. Choroidal atrophy alopecia--also known as--> Moloney syndrome or Regional choroidal atrophy and alopecia. Symptoms include: Fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails. [74]
  136. Choroido cerebral calcification syndrome infantile
  137. Christian Demyer Franken syndrome [75]
  138. Christian Johnson Angenieta syndrome [76]
  139. Christianson Fourie syndrome