Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Megalocornea | CHRDL1 | MGC1 | 309300, 249300 | X-linked recessive |
| Megalocornea, Ectopia Lentis, and Spherophakia | LTBP2 | autosomal recessive | ||
| MELAS Syndrome | multiple | mitochondrial myopathy with encephalopathy and lactic acidosis and stroke-like episodes | 540000 | mitochondrial |
| Mental Retardation, AD 31 | PURA | PURO syndrome, MRD31 | 616758 | autosomal dominant |
| Mental Retardation, AD 34 | COL4A3BP | MRD34 | 616351 | autosomal dominant |
| Mental Retardation, AD 53 | CAMK2A | MRD53 | 617798 | autosomal dominant |
| Mental Retardation, AD 57 | TLK2 | MRD57 | 618050 | autosomal dominant |
| Mental Retardation, X-Linked 99, Syndromic, Female-Restricted | USP9X | MRXS99F | 300968 | X-linked dominant |
| Microcephaly 20, Primary, Autosomal Recessive | kif14 | MCPH20 | 617914 | autosomal recessive |
| Microcephaly, Congenital Cataracts, and Psoriasiform Dermatitis | SC4MOL | SC4MOL deficiency | 616834 | autosomal recessive |
| Microcoria, Congenital | 13q13-q32 locus | congenital miosis, MCOR | 156600 | autosomal dominant |
| Microcornea, Myopia, Telecanthus and Posteriorly-Rotated Ears | ADAMTS18 | MMCAT | autosomal recessive? | |
| Microphthalmia and Anophthalmia, ALDH1A3 Associated | ALDH1A3 | autosomal recessive | ||
| 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 |