1. Achondroplasia |
2. Anomaliea chromosomaticae aliae |
3. Anomalia chromosomatica (Sindrom parcijalne duplikacije 10 p (parcijalna trizomija 10p)) |
4. Arthrogryposis multiplex congenita |
5. Arthritis juvenilis idiopathica – enthesitis |
6. Autozomno dominantno nasljedna mentalna retardacija |
7. MbBehcet |
8. Bolest sa mokraćom mirisa javorovog sirupa |
9. Cloaca persistens |
10. CLOVES sindrom in obs |
11. Craniopharyngeoma |
12. Cystinuria |
13. Deficit PDH |
14. Defitientio proximalis focalis femoris lat dex |
15. Dravet sindrom |
16. Dystrophia musculorum (Duchenne) |
17. Dystrophia myotonica congenitalis typ I (Steinertova bolest) |
19. Dystrophia chorioidealis hereditaria OU |
20. Dystrophia musculorum preogressiva Becker |
21. Sy Emanuel |
22. Epydermolisis bulosa |
23. Fibrosis cystica |
24. Granulomatosis Wegener |
25. Glutarna Acidurija Tip 1 |
26. Giant congenital melanocytic nevus |
27. Glycogenosis typ Ib |
28. Haemophilia |
29. Histiocytosis cellularum Langerhans |
30. Hypoglycemia alia ketotska hipoglikemija |
31. Hyperphenylalaninemia |
32. Hyperammonemia |
33. Ichthyosis acquisita |
34. Imunodefitientio humoralis congenita |
35. Insuff.renum chr.St.post cystectomam pp extrophiama v.urinarie. |
36. Karolijeva bolest |
37. KCNQ2 GEN – VEZANA EPILEPTIČKA ENCEFALOPATIJA NOV. |
38. Keratoconus |
39. Kongenitalni centralni hipoventilacioni sindrom |
40. Lafora bolest |
41. Leiomyosarcoma gradus 3 Tm RP / paracavalis |
42. Lymphoedema hereditarium |
43. Mb Addison |
44. Mb Caroli (policistična bolest jetre i bubrega) |
45. Mb Gaucher typ I |
46. Mb Pompe in obs. |
47. Mb renalis chronicus |
48. Mb Still u odraslih. Hemofagocitni sindrom |
49. Mb Wilson |
50. McArdlerova bolest |
51. Methemoglobinemia congenital |
53. Mitochondrial encephalomyopathy due to combined oxidative phossphorylation deficiency 6 (COXPD6) |
54. Morbi degenerative sistematis nervosi (BATENOVA BOLEST) |
55. Mucopolisacharidosis typ 1 |
56. Mucopolysaccharidosis typ IIIA ( Sanfilippo ) |
57. Mucopolysaccharidosis type 4A |
58. Mucopolisaharidoza non specificata |
59. Myophatia non specifikata |
60. Myopathia congenita |
61. Myeloma multiplex Bence Joness kappa tip IIIA |
63. Myopathia, non specificata |
64. Nail-patella sy |
65. Noonan sindrom –Neurofibromatoza |
66. Neurofibromatosis tip 1 |
67. Nespecifična hromozomopatija (sindrom duplikacije 2q susp.) |
68. Nephrocalcinosis |
69. Neuronalna ceroidna lipofuscinoza |
70. Neuromyelitis optica (Devic) |
71. Neuropathya cum neuromyotonia |
72. Meningomyelocelam |
73. Pemphigus vulgaris |
74. Pelizaeus – Merzbacher sy |
75. Phenylketonuria classica |
76. Primarna hiperinsulinemijska hipoglikemija |
77. Progressive myoclonic epilepsy (PME/ EPM) |
78. Retinopathia pigmentosa |
79. Rijetko nasljedno oboljenje sa mentalnom zaostalosti i razvojnim anomalijama (neutvrđena etiologija) |
80. Rett sy |
81. Scleroderma progressivum diffusim |
82. SCA Spinocerebralna ataksija |
83. Sclerosis tuberosa |
84. Sequestratio pulmonis |
85. Sindrom mikrodelecije 4q21 |
86. SMA tip I |
87. SMA tip III |
88. Sy Alport |
89. Sy Angelman |
90. Sy Bernard Soulier |
91. Sy Beckwith-Wiedemann |
92. Sy Cornelia de Lange |
93. Sy Di George |
94. Sy Goldendhar |
95. Sy Edvards |
96. Sy Eisenmenger |
97. Sy Netherton |
98.Sy nephritica acuta, glomerulonephritis proliferativa |
100.Sy Lennox Gastaut |
101.Sy nephroticum conatalis |
102.Sy Prader – Willi |
103. Pendred sy |
104. Sy Pierre Robin |
105. Sy Sturge-Weber |
106. Silver-Russell sy |
107. Sy Wolf – Hirschorn |
108. Sy Williams |
109. Syringomyelia et syringobulbia |
110.Tetralogia Fallot |
111. Toxoplasmosis congenita RPM, microcephalia |
112. Trisomiae autosomaticae partiales aliae, specificatae |
113. Verheij sy |