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1. TSEN34-Related Pontocerebellar Hypoplasia‏‎ (2 revisions)
2. MYH6-Related Familial Hypertrophic Cardiomyopathy‏‎ (2 revisions)
3. Retinal Vasculopathy with Cerebral Leukodystrophy‏‎ (2 revisions)
4. Hereditary Sensory and Autonomic Neuropathy IV‏‎ (2 revisions)
5. Congenital Disorder of Glycosylation Id‏‎ (2 revisions)
6. X-Linked Mental Retardation 46‏‎ (2 revisions)
7. Weissenbacher-Zweymuller Syndrome‏‎ (2 revisions)
8. MasonConnelly275‏‎ (2 revisions)
9. SCN2A-Related Febrile Seizures Associated with Afebrile Seizures‏‎ (2 revisions)
10. Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome‏‎ (2 revisions)
11. Van der Woude Syndrome‏‎ (2 revisions)
12. Papular Atrichia‏‎ (2 revisions)
13. Smith-Lemli-Opitz Syndrome‏‎ (2 revisions)
14. CEP290-Related Meckel Syndrome‏‎ (2 revisions)
15. Long QT Syndrome 11‏‎ (2 revisions)
16. RYR2-Related Catecholaminergic Polymorphic Ventricular Tachycardia‏‎ (2 revisions)
17. Arginase Deficiency‏‎ (2 revisions)
18. Familial Hemophagocytic Lymphohistiocytosis 3‏‎ (2 revisions)
19. Polycystic Kidney Disease, Autosomal Recessive‏‎ (2 revisions)
20. SMAD4-Related Hereditary Hemorrhagic Telangiectasia‏‎ (2 revisions)
21. DFNB37 Nonsyndromic Hearing Loss and Deafness‏‎ (2 revisions)
22. GaylaStrode774‏‎ (2 revisions)
23. CLN8-Related Neuronal Ceroid-Lipofuscinosis‏‎ (2 revisions)
24. Transaldolase Deficiency‏‎ (2 revisions)
25. Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3E-Related‏‎ (2 revisions)
26. Familial Posterior Fossa Brain Tumor of Infancy‏‎ (2 revisions)
27. LGMD1B‏‎ (2 revisions)
28. Trismus-Pseudocamptodactyly Syndrome‏‎ (2 revisions)
29. Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant‏‎ (2 revisions)
30. Corneal Dystrophy, Gelatinous Drop-Like‏‎ (2 revisions)
31. Alzheimer Disease Type 1‏‎ (2 revisions)
32. Inclusion Body Myopathy 2‏‎ (2 revisions)
33. Vitamin D-Dependent Rickets Type II‏‎ (2 revisions)
34. Achromatopsia 3‏‎ (2 revisions)
35. RomanSteck774‏‎ (2 revisions)
36. Spinal Muscular Atrophy with Respiratory Distress 1‏‎ (2 revisions)
37. Frontometaphyseal Dysplasia‏‎ (2 revisions)
38. Ataxia with Oculomotor Apraxia 2‏‎ (2 revisions)
39. Progeroid Laminopathies‏‎ (2 revisions)
40. Iris Hypoplasia‏‎ (2 revisions)
41. Charcot-Marie-Tooth Neuropathy Type 1B‏‎ (2 revisions)
42. Spondyloepiphyseal Dysplasia, Congenita‏‎ (2 revisions)
43. Wolfram Syndrome‏‎ (2 revisions)
44. TGIF-Related Holoprosencephaly‏‎ (2 revisions)
45. Isovaleric Acidemia‏‎ (2 revisions)
46. Charcot-Marie-Tooth Neuropathy X Type 1‏‎ (2 revisions)
47. Phenylalanine Hydroxylase Deficiency‏‎ (2 revisions)
48. GLRB-Related Hyperekplexia‏‎ (2 revisions)
49. PRPF 8-Related Retinitis Pigmentosa‏‎ (2 revisions)
50. Lissencephaly 3‏‎ (2 revisions)

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