Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Microphthalmia with Coloboma, AD | SHH, GDF3 | MCOPCB2, MCOPCB3, MCOPCB4, MCOPCB5, MCOPCB6, isolated colobomatous microphthalmia, SHH, GDF3 | 605738, 611638, 613703, 251505 | autosomal recessive, autosomal dominant |
| Microphthalmia with Coloboma, X-Linked | ? | colobomatous microphthalmia, isolated microphthalmia with coloboma, MCOPCB1 | 300345 | X-linked recessive |
| Microphthalmia with Limb Anomalies | SMOC1 | Waardenburg anophthalmia syndrome, anophthalmia-syndactyly, ophthalmoacromelic syndrome, OAS, MLA | 206920 | autosomal recessive |
| Microphthalmia with Retinitis Pigmentosa | MFRP | MCOP5, microphthalmia 5 | 611040 | autosomal recessive |
| Microphthalmia, AR | VSX2 | MCOP2, isolated microphthalmia 2, isolated clinical anophthalmia | 610092, 610093 | autosomal recessive |
| Microphthalmia, Isolated, with Cataract | SIX6 | MCOPCT1, MCOPCT3, MCOPCT2 | 156850, 212550, 302300 | autosomal dominant |
| Microphthalmia, Syndromic 1 | Xq27-Xq28 locus | MCOPS1, syndromic 1 microphthalmia, Lenz dysplasia, Lenz microphthalmia syndrome | 309800 | X-linked recessive |
| Microphthalmia, Syndromic 10 | ? | MCOPS10, microphthalmia and brain atrophy, MOBA | 611222 | autosomal recessive? |
| Microphthalmia, Syndromic 2 | BCOR | MCOPS2, OFCD syndrome, oculofaciocardiodental syndrome | 300166 | X-linked dominant |
| Microphthalmia, Syndromic 3 | SOX2 | MCOPS3, AEG syndrome, microphthalmia and esophageal atresia syndrome, anophthalmia-esophageal-genital syndrome | 206900 | autosomal dominant |
| Microphthalmia, Syndromic 4 | ? | MCOPS4, microphthalmia with ankyloblepharon and mental retardation | 301590 | X-linked recessive |
| Microphthalmia, Syndromic 5 | OTX2 | MCOPS5 | 610125 | autosomal dominant |
| Microphthalmia, Syndromic 6 | BMP4 | MCOPS6, microphthalmia and pituitary anomalies, microphthalmia with brain and digit anomalies | 607932 | autosomal dominant |
| Microphthalmia, Syndromic 7 | HCCS, COX7B | MCOPS7, MIDAS syndrome, syndromic microphthalmia 7, MLS, microphthalmia with linear skin defects, microphthalmia with dermal aplasia and sclerocornea | 309801 | X-linked dominant |
| Microphthalmia, Syndromic 8 | SNX3 | MCOPS8, MMEP, microcephaly with microphthalmia and ectrodactyly of lower limbs and prognathism | 601349 | ? |
| Microphthalmia, Syndromic 9 | STRA6 | MCOPS9, Matthew-Wood syndrome, anophthalmia/microphthalmia and pulmonary hypoplasia, Spear syndrome, STRA6, microphthalmia and pulmonary agenesis | 601186 | autosomal recessive |
| Mitochondrial DNA Depletion Syndrome 1 | TYMP | MTDPS1, MNGIE | 603041 | autosomal recessive |
| Mitochondrial DNA Depletion Syndrome 3 | DGUOK | MTDPS3, hepatocerebral type DNA depletion syndrome | 251880 | autosomal recessive |
| Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency | ECHS1 | ECHS1D | 616277 | autosomal recessive |
| Möebius Syndrome | MBS, Möebius sequence | 157900 | autosomal dominant?, autosomal recessive? | |
| Morquio Syndrome (MPS IVA) | GALNS | mucopolysaccharidosis type IVA, MPS IVA, MPS4A, Morquio A disease | 253000 | autosomal recessive |
| Morquio Syndrome (MPS IVB) | GLB1 | MPS IVB, MPS4B, mucopolysaccharidosis type IVB | 253010 | autosomal recessive |
| Mowat-Wilson Syndrome | ZEB2 | Hirschsprung disease-mental retardation syndrome | 235730 | autosomal dominant |
| Multiple Endocrine Neoplasia, Type IIB | RET | MEN2B, mucosal neuroma syndrome, Wagenmann-Froboese syndrome | 162300 | autosomal dominant |
| Multiple Mitochondrial Dysfunctions Syndrome 4 | ISCA2 | MMDS4 | 616370 | autosomal recessive |
| Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability | INPP5K | MDCCAID | 617404 | autosomal recessive |
| Myasthenic Syndromes, Congenital, Including AChR Deficiency | CHRNE, CHRNB1, RAPSN, MUSK | congenital myasthenic syndrome associated with acetylcholine receptor deficiency, CMSId, congenital myasthenic syndrome type Id, CMS1D | 608931 | autosomal recessive |
| Myopathy, Mitochondrial Anomalies, and Ataxia | MSTO1 | MMYAT | 617675 | autosomal dominant, autosomal recessive |
| Myopia 1, X-linked, Nonsyndromal | MYP1 | MYP1 | 310460 | X-linked recessive |
| Myopia 2, Autosomal Dominant, Nonsyndromal | multiple susceptibility loci | extreme nearsightedness, MYP2 | 160700 | autosomal dominant |
| Myopia 25, Autosomal Dominant, Nonsyndromic | P4HA2 | MYP25 | 617238 | autosomal dominant |
| Myopia 26, X-Linked, Female-Limited | ARR3 | MYP26 | 301010 | X-linked, female limited |
| Myopia and Deafness | SLITRK6 | DFNMYP | 221200 | autosomal recessive |
| Myopia, AR, with Cataracts and Vitreoretinal Degeneration | LEPREL1 | high myopia with cataract and vitreoretinal degeneration, MCVD | 614292 | autosomal recessive |
| Myotonic Dystrophy 1 | DMPK | DM1, Steinert disease, dystrophia myotonica, DM | 160900 | autosomal dominant |
| Myotonic Dystrophy 2 | CNDB | Ricker syndrome, proximal myotonic dystrophy, PROMM, DM2 | 602668 | autosomal dominant |