MACHOS

Tests:

HD & ED normal
Todo N/N
1. Congenital Eye Malformation (CEM) 
2. Congenital Hypomyelinating Polyneuropathy (MPZ-related)
3. Congenital Hypomyelinating Polyneuropathy
(MTMR2-related)
4. Congenital Hypomyelinating Polyneuropathy
(SH3TC2-related)
5. Degenerative Myelopathy Exon 2 (DM Exon 2)
6. Dystrophic Epidermolysis Bullosa (RDEB) 
7. Ichthyosis - Golden Retriever Type 1
8. Ichthyosis - Golden Retriever Type 2
9. Muscular Dystrophy (MD)
10. Neuronal Ceroid Lipofuscinosis 5 (NCL5) 
11. Osteogenesis Imperfecta (OI) 
12. Progressive Retinal Atrophy (GR-PRA1)
13. Progressive Retinal Atrophy (GR-PRA2)
14. Progressive Retinal Atrophy (prcd-PRA)