| Condition | OMIM | Gene/locus | Mutation(s). genotypes | Publication(s) |
| Cytochrome P450, subfamily IIC, polypeptide 9.CYP2C9 isoenzyme genotypes | 601130 | 10q24 | CYP2C9’2CYP2C9”3 | Tanira MO et al., 2007 |
| Three M syndrome | 273750 | 6p 21.1 | c.4406A>G (exon 23) an aminocaid change Q1469R | Valerie Cormier-Daire MD, PhDDepertment of Medical Genetics and INSERM, France |
| Alport Syndrome A. Rec | 207765 | COL4A3 | R1215X(CGA>TGA | Personal Cominication ( Dr. Mato Nagel, Molecular Genetics Unit, Hamburg-Ependorf University) |
| Apparent Mineralocorticoid excess (AME 1) | 218030 | 16Q22HSD11B2 | Exon 2:L114Delta6ntExon 3 :A221VExon 5: V322ins9ntExon 1: R74G and PDelta1nt | Quinkler M et al.,. 2004 . |
| Beta-Thal | 141900 | 11p15.5 | IVS15(G>C);Cd 44-C;IVS1-3 end-25;619bp del;,IVS II,1G.A; Cd36/37(C>T) | Daar et al., 2004White et al., 1993 |
| Cystic Fibrosis | 219700 | 7q31.2 | S549R(T>G) deltaF508 | 1.Frossard PM et al., Hum Mutat 1998.2. Frossard et al. Eur Respir J. 1999.3 Frossard P et al., 1996.4.Romey et al, Hum Genet. 1999 |
| Cohen Microcephaly | 216550 | 8Q22-Q23 | Exon 437934G>A | Hennies et al., 2004;Mochida at al., 2004 |
| Charkot-Marie-Tooth disease 4A | | 8q | GDAP1 geneStart-codone mutation | Karl sperling |
| Congenital Adrenal Hyperplasia(21-Hysdroxylase deficiency) | 201910 | CYP 21A2 gene | Mut exons 4, 6,7,8(lle 236Asp,Val 237Glu,Met 239Lys,306T insert,Glu 318Stop ; convertion Cyp 21P to Cyp 21A2);Mut exon 2 :656) | Prof W. Hopper (personal comunication |
| Fanconi Anaemia | 600185 | FANKCD1 gene | 9609C>Texon 25 | Prof. Martin Digweed, Berlin, Germany |
| Familiar CRM+Factor X deficiency | 227600 | 13Q34 | Gly381Asp | Pinotti M et al.,. 2003 |
| Ectodermal dysplasia A. Rec | | 2 | EDAR 718delAAA. | Andreas Tzschach, Max Plank Inst (personal communication) |
| Ectodermal dysplasia X-linked | | X-linked | EDA
(Gly291Arg, G1113A). | Andreas Tzschach, Max-Plank Inst (personal communication) |
| Familiar Microcephaly | 607117 | 8P23 | MCPH-1 | Ganesh Moshida, Harward Instutute Neurology (personal communication) |
| Familiar Microcephaly | 608716 | 1q31 | MCPH-5ASPM gene | Ganesh Moshida, Harward Instutute Neurology (personal communication) |
| G6PDDeficiency | 305900 | Xq28G6PDdehydrogenase | MediterranianChatham G6PD A- | Daar et al., 2004;White et al., 1993 |
| Grebe Acromesomelic Dysplasia | 200700 | 20q11.2 | Del G1144 | Al-Yahyaee et al., 2003 |
| | | | | |
| HbH disease (alfa-Thal) | 141800 | 16pter-p13.3 | Alfa-globinaPA-1a/aPA-1a--MED-1 del-2 (-3.7 kb) | Dr. Baysal E, Al-Wasl Hospital, UAE(personal communication)Ramachandran m et al., 1992 |
| Hemoglobin Muscat | 141900 | 11p15.5 | alfa 2 beta (2) 32 (B14) Leu® Val | Ramachandran M et al., 1992 |
| Hemoglobin S (Oman) | 1419000245 | 11p15.5 | HBB, GLU6VAL AND GLU121LYS | Langdown et al. (1989)Nagel et al. (1998) |
| Hemoglobin Dhofar | 141900 | 11p15.5 | codon 29 C-->T (IVS-1 nt-3) | Marengo-Rowe et al., 1968;Wlliamson et al., 1995 |
| Hyperexplexia | 149400 | 5q31-q33 | GLRA1 | Dr. M.Fiol (personal comunication) |
| Hemophagocytic Lymphohistiocytosis type 1 | 603552 | 9q21 | FHL1 geneDel 9q 21.5-22 | Ohadi et al.1999;Muralitharan S et al, 2005 |
| Lissencephaly LIS 4A | 300121 | Xq22.3-23 | DCX geneexon 5 2T>C | B Dobbyns ( Chicago, USA) |
| Limb Girdle muscular dystrophy 2B;LGMD2B (Miyoshi myopathy) | 254130 | 2P13.3-13.1 | c.526C>(p.Gln176X) exon 6 | Wolfram Kress and Prof. Grimm (Wuerzburg, Germany) |
| Pontocerebellar Hypoplasia type 2 | 277470 | 7q11-21 | | Rajab A et al.,Neurology, 2003 |
| Robinow syndrome | 268310 | 9q22RBNW1 | Loss ROR 2;Mut R442X | Afzal A. et al., Letter. Nature Genetics 2000; 25(4):419-422.’Prof. Stefan Mundlos(personal comunication) |
| Spinal Muscular Atrophy | 253300 | 5q12.2-q13.3 | deletions of exons 7 and 8 | Simsek et al., 3003 |
| Sickle Cell Anaemia | 603903 | 11p15.5BeninBantuBantu A-4Arab-IndianAI/AI | beta121 Glu >Lysbeta 6 Glu > Val HbOARAB | Daar et al., 2004;White et al., 1993 |
| SED (Spondyloepiphyseal Dysplasia) Omani type | 608637 | 10Q23CHST3 | Missence mut in C6ST-1 geneR304Q | Tiele et al., 2004;Rajab et al.,2004 |
| Schwartz-Jampel syndrome | 255800 | 1P36.1 | HSPG-2 | Nicole S et al.,Nature Genet. 26: 480-483, 2000. |
| Thanatophoric Dysplasia | 187600 | 4p16.3 | G38OR in FGFR3 | Prof. Mundlos (personal communication) |
| Zellweger syndrome | 602136 | peroxin PEX-1 | Mut :c.1927_1928dupA;.Thr643AsnfsX 21 exon 12 and c. 2088A>G[p.lle696Met; exon 13 | Dr. Andreas Ohlenbusch (personal communication) |
