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MADA ( Mandibuloacral dysplasia with type A lipodystrophy [8] )
MADB ( Mandibuloacral dysplasia with type B lipodystrophy [1] )
MAS ( McCune-Albright syndrome [68] )
MAT I/III deficiency ( Methionine adenosyltransferase deficiency [1] )
MAT deficiency ( Methionine adenosyltransferase deficiency [1] )
MCD ( Macular corneal dystrophy [20] )
MCDC1 ( Macular corneal dystrophy [20] )
MCDR1 ( North Carolina macular dystrophy [7] )
MCDS ( Metaphyseal chondrodysplasia, Schmid type [4] )
MCL ( Leiomyoma, hereditary multiple, of skin [4] )
MCOP ( Microphthalmia, isolated, 1 [1] )
MCOP1 ( Microphthalmia, isolated, 1 [1] )
MCOP3 ( Microphthalmia, isolated, 3 [1] )
MCOPCB3 ( Microphthalmia, isolated, with coloboma 3 [2] )
MCOPS1 ( Microphthalmia, syndromic 1 [1] )
MCOPS2 ( Microphthalmia, syndromic 2 [1] )
MCOPS3 ( Microphthalmia, syndromic 3 [1] )
MCOPS7 ( Microphthalmia, syndromic 7 [3] )
MCOPS9 ( Microphthalmia, syndromic 9 [1] )
MCOR ( Microcoria, congenital [1] )
MCPH3 ( Microcephaly, primary autosomal recessive, 3 [1] )
MCPH5 ( Microcephaly, primary autosomal recessive, 5 [4] )
MCPH6 ( Microcephaly, primary autosomal recessive, 6 [1] )
MCUL1 ( Leiomyoma, hereditary multiple, of skin [4] )
MDC1A ( Muscular dystrophy, congenital merosin-deficient [7] )
MDC1C ( Muscular dystrophy, congenital, 1C [1] )
MDC1D ( Muscular dystrophy, congenital, type 1D [1] )
MDLS ( Miller-Dieker lissencephaly syndrome [13] )
MDM ( Mal de Meleda [3] )
MDR3 deficiency ( Cholestasis, progressive familial intrahepatic 3 [3] )
MDRS1 ( Rigid spine muscular dystrophy 1 [5] )
MEA I ( Multiple endocrine neoplasia, type I [1] )
MEB ( Muscle-eye-brain disease [5] )
MECP2 duplication syndrome ( Lubs X-linked mental retardation syndrome [2] )
MED-IDDM syndrome ( Wolcott-Rallison syndrome [1] )
MELAS ( Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes [40] )
MELAS syndrome ( Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes [40] )
MEN I ( Multiple endocrine neoplasia, type I [1] )
MEN IIB ( Multiple endocrine neoplasia, type IIB [9] )
MEN1 ( Multiple endocrine neoplasia, type I [1] )
MEN2A ( Multiple endocrine neoplasia, type IIA [43] )
MEN2B ( Multiple endocrine neoplasia, type IIB [9] )
MEN3 ( Multiple endocrine neoplasia, type IIB [9] )
MENIN ( Multiple endocrine neoplasia, type I [1] )
MES ( Meckel syndrome [4] )
MFD1 ( Treacher Collins syndrome [12] )
MFM, ZASP-related ( Myopathy, myofibrillar, ZASP-related [2] )
MFM, desmin-related ( Myopathy, myofibrillar, desmin-related [13] )
MFM, filamin C-related ( Filaminopathy, autosomal dominant [6] )
MFM, myotilin-related ( Myotilinopathy [4] )
MFS ( Marfan syndrome [28] )
MFS1 ( Marfan syndrome [28] )
MGA, type II ( Barth syndrome [5] )
MGS ( Mungan syndrome [1] )
MH ( Susceptibility to malignant hyperthermia [3] )
MHA ( May-Hegglin anomaly [14] )
MHAC ( Microhydranencephaly [1] )
MHP1 ( Migraine, familial hemiplegic, 1 [2] )
MHS ( Susceptibility to malignant hyperthermia [3] )
MHS1 ( Susceptibility to malignant hyperthermia [3] )
MIDAS syndrome ( Microphthalmia, syndromic 7 [3] )
MJD ( Machado-Joseph disease [10] )
MK ( Menkes disease [11] )
MKD ( Mevalonic aciduria [2] )
MKKS ( McKusick-Kaufman syndrome [7] )
MKS ( Meckel syndrome [4] )
MKS1 ( Meckel syndrome [4] )
MKS4 ( Meckel syndrome, type 4 [2] )
ML I ( Neuraminidase deficiency [4] )
ML II ( Mucolipidosis II [12] )
ML III ( Mucolipidosis IIIA [2] )
ML IIIA ( Mucolipidosis IIIA [2] )
ML IV ( Mucolipidosis IV [7] )
MLASA ( Mitochondrial myopathy and sideroblastic anemia [1] )
MLC ( Megalencephalic leukoencephalopathy with subcortical cysts [6] )
MLD ( Metachromatic leukodystrophy [22] )
MLS ( Microphthalmia, syndromic 7 [3] )
MM ( Miyoshi myopathy [9] )
MMEDF ( Macrocephaly with multiple epiphyseal dysplasia and distinctive facies [2] )
MMIH syndrome ( Megacystis-microcolon–intestinal hypoperistalsis syndrome [8] )
MMR deficiency ( Mismatch repair cancer syndrome [3] )
MMRCS ( Mismatch repair cancer syndrome [3] )
MMT syndrome ( Feingold syndrome [5] )
MNGIE ( Mitochondrial neurogastrointestinal encephalopathy syndrome [2] )
MNK ( Menkes disease [11] )
MNS ( Melnick-Needles syndrome [11] )
MODED ( Feingold syndrome [5] )
MORM syndrome ( Mental retardation, truncal obesity, retinal dystrophy, and micropenis [1] )
MPD1 ( Myopathy, distal 1 [8] )
MPGN II with complement factor H deficiency ( Complement factor H deficiency [7] )
MPS II ( Mucopolysaccharidosis, type II [10] )
MPS IIIB ( Mucopolysaccharidosis, type IIIB [2] )
MPS IVA; ( Mucopolysaccharidosis, type IVA [1] )
MPS IVB ( Mucopolysaccharidosis, type IVB [11] )
MPS VI ( Mucopolysaccharidosis, type VI [4] )
MPS VII ( Mucopolysaccharidosis, type VII [3] )
MPS2 ( Mucopolysaccharidosis, type II [10] )
MPS3B ( Mucopolysaccharidosis, type IIIB [2] )
MPS4A ( Mucopolysaccharidosis, type IVA [1] )
MPS4B ( Mucopolysaccharidosis, type IVB [11] )
MPS6 ( Mucopolysaccharidosis, type VI [4] )
MPS7 ( Mucopolysaccharidosis, type VII [3] )
MRK anomaly ( Rokitansky-Kuster-Hauser syndrome [25] )
MRKH anomaly ( Rokitansky-Kuster-Hauser syndrome [25] )
MRKH, type II ( Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies [7] )
MROS ( Melkersson-Rosenthal syndrome [9] )
MRS ( Melkersson-Rosenthal syndrome [9] )
MRX59 ( Mental retardation, X-linked 59 [2] )
MRX92 ( Mental retardation, X-linked 92 [1] )
MRX93 ( Mental retardation, X-linked 93 [1] )
MRXC ( Mental retardation, X-linked, with short stature, small testes, muscle wasting, and tremor [4] )
MRXS8 ( Renpenning syndrome [1] )
MRXSJ ( Mental retardation, X-linked, syndromic, JARID1C-related [1] )
MRXSL ( Lubs X-linked mental retardation syndrome [2] )
MRXSSD ( Siderius X-linked mental retardation syndrome [1] )
MSA ( Mitochondrial myopathy and sideroblastic anemia [1] )
MSS ( Marinesco-Sjögren syndrome [5] )
MSTD ( Frontotemporal dementia [63] )
MSUD ( Maple syrup urine disease [7] )
MTM1 ( Centronuclear myopathy [35] )
MTMX ( Centronuclear myopathy [35] )
MTP deficiency ( Abetalipoproteinemia [1] )
MTS ( Mohr-Tranebjaerg syndrome [1] )
MTS ( Muir-Torre syndrome [12] )
MUHH ( Hypotrichosis congenita hereditaria Marie Unna [4] )
MURCS ( Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies [7] )
MWS ( Marden-Walker syndrome [1] )
MYMY2 ( Moyamoya disease 2 [1] )
MYP13 ( Myopia 13 [1] )
Machado-Joseph disease [10]
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies [2]
Macrocephaly, multiple lipomas, and hemangiomata ( Bannayan-Riley-Ruvalcaba syndrome [6] )
Macrocephaly, pseudopapilledema, and multiple hemangiomata ( Bannayan-Riley-Ruvalcaba syndrome [6] )
Macrocephaly/autism syndrome [1]
Macrodactyly ( Megalodactyly [7] )
Macrodystrophia lipomatosa [7]
Macroglossia [7]
Macrothrombocytopathy, nephritis, and deafness ( Epstein syndrome [2] )
Macrothrombocytopenia with leukocyte inclusions ( May-Hegglin anomaly [14] )
Macrothrombocytopenia, X-linked ( Dyserythropoietic anemia with thrombocytopenia [6] )
Macular corneal dystrophy [20]
Macular corneal dystrophy, type I ( Macular corneal dystrophy [20] )
Macular corneal dystrophy, type II ( Macular corneal dystrophy [20] )
Macular degeneration, age-related, 1 [1]
Macular degeneration, age-related, 2 [1]
Macular degeneration, juvenile ( Stargardt disease 1 [24] )
Macular degeneration, polymorphic vitelline ( Macular dystrophy, vitelliform [12] )
Macular degeneration, senile ( Macular degeneration, age-related, 2 [1] )
Macular dystrophy with flecks, type 1 ( Stargardt disease 1 [24] )
Macular dystrophy with flecks, type 3 ( Stargardt disease 3 [6] )
Macular dystrophy, autosomal dominant, chromosome 6-linked ( Stargardt disease 3 [6] )
Macular dystrophy, butterfly-shaped pigmentary ( Patterned dystrophy of retinal pigment epithelium [8] )
Macular dystrophy, butterfly-shaped pigmentary, 2 [6]
Macular dystrophy, concentric annular [1]
Macular dystrophy, corneal, 1 ( Macular corneal dystrophy [20] )
Macular dystrophy, hemorrhagic ( Fundus dystrophy, pseudoinflammatory, of Sorsby [9] )
Macular dystrophy, retinal, 1, North Carolina type ( North Carolina macular dystrophy [7] )
Macular dystrophy, retinal, 2 [1]
Macular dystrophy, vitelliform [12]
Maculopathy, age-related, 1 ( Macular degeneration, age-related, 1 [1] )
Maculopathy, age-related, 2 ( Macular degeneration, age-related, 2 [1] )
Maculopathy, bull's eye ( Macular dystrophy, concentric annular [1] )
Madelung deformity ( Leri-Weill dyschondrosteosis [6] )
Maffucci syndrome [21]
Mal de Meleda [3]
Mal de Naxos ( Naxos disease [8] )
Malaria, congenital [1]
Malattia leventinese ( Doyne honeycomb retinal dystrophy [7] )
Male Turner syndrome ( Noonan syndrome [12] )
Male pseudohermaphroditism due to multiple microsomal mixed function ( POR deficiency [2] )
Malignant atrophic papulosis [12]
Malignant hyperthermia, susceptibility to, 1 ( Susceptibility to malignant hyperthermia [3] )
Mandibuloacral dysplasia with type A lipodystrophy [8]
Mandibuloacral dysplasia with type B lipodystrophy [1]
Mandibulofacial dysostosis ( Treacher Collins syndrome [12] )
Mandibulofacial dysostosis with ptosis, autosomal dominant [1]
Mannosidosis, alpha B, lysosomal [4]
Maple syrup urine disease [7]
Marble bones, autosomal dominant ( Osteopetrosis, autosomal dominant, type II [7] )
Marble bones, autosomal recessive ( Osteopetrosis, autosomal recessive [16] )
Marble brain disease ( Osteopetrosis, autosomal recessive 3 [10] )
Marcus Gunn phenomenon [2]
Marden-Walker syndrome [1]
Marfan syndrome [28]
Marfan syndrome - Cardiovascular system [58]
Marfan syndrome - Eyes [8]
Marfan syndrome - Nervous system [13]
Marfan syndrome - Respiratory system [7]
Marfan syndrome, type I ( Marfan syndrome [28] )
Marfanoid craniosynostosis syndrome ( Shprintzen-Goldberg craniosynostosis syndrome [3] )
Marfanoid disorder with craniosynostosis, type I ( Shprintzen-Goldberg craniosynostosis syndrome [3] )
Marie Unna hereditary hypotrichosis ( Hypotrichosis congenita hereditaria Marie Unna [4] )
Marie-Strumpell spondylitis ( Spondyloarthropathy [7] )
Marinesco-Sjögren syndrome [5]
Maroteaux-Lamy syndrome ( Mucopolysaccharidosis, type VI [4] )
Marshall syndrome [3]
Martin-Bell syndrome ( Fragile X syndrome [29] )
Mast syndrome [1]
Matthew-Wood syndrome ( Microphthalmia, syndromic 9 [1] )
Maumenee corneal dystrophy ( Corneal endothelial dystrophy 1 [1] )
Maumenee corneal dystrophy ( Corneal endothelial dystrophy 2 [2] )
Maxillonasal dysplasia, Binder type ( Binder syndrome [11] )
Maxillopalpebral synkinesis ( Marcus Gunn phenomenon [2] )
May-Hegglin anomaly [14]
May-Hegglin thrombocytopenia ( May-Hegglin anomaly [14] )
Mayer-Rokitansky-Kuster-Hauser syndrome ( Rokitansky-Kuster-Hauser syndrome [25] )
Mayer-Rokitansky-Kuster-Hauser syndrome, type II ( Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies [7] )
McArdle disease ( Glycogen storage disease V [17] )
McCabe disease ( Familial expansile osteolysis [2] )
McCune-Albright syndrome [68]
McGrath syndrome ( Ectodermal dysplasia/skin fragility syndrome [7] )
McKusick-Kaufman syndrome [7]
McLeod syndrome [6]
Measles, congenital [3]
Meckel diverticulum [34]
Meckel diverticulum - Gross pathology [14]
Meckel diverticulum - Histology [16]
Meckel diverticulum - Imaging [59]
Meckel syndrome [4]
Meckel syndrome - Prenatal diagnosis [13]
Meckel syndrome, type 1 ( Meckel syndrome [4] )
Meckel syndrome, type 4 [2]
Meckel-Gruber syndrome ( Meckel syndrome [4] )
Meckel-Gruber syndrome, type 4 ( Meckel syndrome, type 4 [2] )
Meckel-like cerebrorenodigital syndrome ( Meckel syndrome, type 4 [2] )
Meckel-like syndrome ( Renal-hepatic-pancreatic dysplasia [5] )
Meconium aspiration [11]
Meconium ileus [14]
Meconium peritonitis [5]
Meconium peritonitis - Prenatal diagnosis [13]
Meconium plug syndrome [3]
Median facial cleft syndrome ( Frontonasal dysplasia [17] )
Mediastinal teratoma [13]
Mediterranean fever, familial ( Familial Mediterranean fever [13] )
Meesmann corneal epithelial dystrophy ( Corneal dystrophy, juvenile epithelial, of Meesmann [15] )
Megabladder ( Megacystis [7] )
Megacolon, aganglionic ( Hirschsprung disease [10] )
Megacystis [7]
Megacystis-microcolon–intestinal hypoperistalsis syndrome [8]
Megalencephalic leukoencephalopathy with subcortical cysts [6]
Megalencephaly, unilateral ( Hemimegalencephaly [20] )
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness ( Thiamine-responsive megaloblastic anemia syndrome [1] )
Megalocystis ( Megacystis [7] )
Megalodactyly [7]
Megalourethra [2]
Megaprepuce, congenital [3]
Megaureter [23]
Melanodermic leukodystrophy ( Adrenoleukodystrophy [65] )
Melanoma, cutaneous malignant [14]
Melanoma, familial ( Melanoma, cutaneous malignant [14] )
Melanoma, malignant ( Melanoma, cutaneous malignant [14] )
Melanosis, neurocutaneous [26]
Meleda disease ( Mal de Meleda [3] )
Melkersson syndrome ( Melkersson-Rosenthal syndrome [9] )
Melkersson-Rosenthal syndrome [9]
Melkersson-Rosenthal-Miescher syndrome ( Melkersson-Rosenthal syndrome [9] )
Melnick-Fraser syndrome ( Branchiootorenal syndrome 1 [6] )
Melnick-Needles osteodysplasty ( Melnick-Needles syndrome [11] )
Melnick-Needles syndrome [11]
Melorheostosis [11]
Melorheostosis with osteopoikilosis ( Melorheostosis [11] )
Membranoproliferative glomerulonephritis, type II, with complement factor H deficiency ( Complement factor H deficiency [7] )
Membranous obstruction of the inferior vena cava ( Budd-Chiari syndrome [59] )
Mendenhall syndrome ( Rabson-Mendenhall syndrome [3] )
Meningocele [16]
Meningocele - Prenatal diagnosis [5]
Meningoencephalocele [6]
Meningoencephalocele - Prenatal diagnosis [5]
Meningofacial angiomatosis - cerebral calcification syndrome ( Sturge-Weber syndrome [21] )
Meningomyelocele [28]
Meningomyelocele - Histology [7]
Menkes disease [11]
Mental deficiency, epilepsy, and endocrine disorders ( Borjeson-Forssman-Lehmann syndrome [3] )
Mental retardation and muscular atrophy ( Allan-Herndon-Dudley syndrome [3] )
Mental retardation and nasal papillomata ( Costello syndrome [12] )
Mental retardation with epilepsy and characteristic facies [2]
Mental retardation, X-linked 59 [2]
Mental retardation, X-linked 92 [1]
Mental retardation, X-linked 93 [1]
Mental retardation, X-linked nonsyndromic ( Faciogenital dysplasia [5] )
Mental retardation, X-linked, Lubs type ( Lubs X-linked mental retardation syndrome [2] )
Mental retardation, X-linked, Renpenning type ( Renpenning syndrome [1] )
Mental retardation, X-linked, Siderius type ( Siderius X-linked mental retardation syndrome [1] )
Mental retardation, X-linked, syndromic 8 ( Renpenning syndrome [1] )
Mental retardation, X-linked, syndromic, JARID1C-related [1]
Mental retardation, X-linked, syndromic, UBE2A-related [1]
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [2]
Mental retardation, X-linked, with hypotonia ( Allan-Herndon-Dudley syndrome [3] )
Mental retardation, X-linked, with macrocephaly ( Mental retardation, X-linked 93 [1] )
Mental retardation, X-linked, with marfanoid habitus ( Lujan-Fryns syndrome [3] )
Mental retardation, X-linked, with recurrent respiratory infections ( Lubs X-linked mental retardation syndrome [2] )
Mental retardation, X-linked, with short stature, small testes, muscle wasting, and tremor [4]
Mental retardation, joint hypermobility, and skin laxity, with or without metabolic abnormalities [1]
Mental retardation, syndromal, with intermittent hyperventilation ( Pitt-Hopkins syndrome [3] )
Mental retardation, truncal obesity, retinal dystrophy, and micropenis [1]
Mental retardation, unusual facies, and intrauterine growth retardation ( Pitt-Rogers-Danks syndrome [1] )
Menzel type OPCA ( Spinocerebellar ataxia 1 [4] )
Meretoja type amyloidosis ( Amyloidosis V [7] )
Mermaid syndrome ( Sirenomelia [17] )
Mesenchymal hamartoma of the chest wall [15]
Mesenchymal hamartoma of the liver [12]
Mesiodens-cataract syndrome ( Nance-Horan syndrome [3] )
Mesoblastic nephroma [13]
Mesoblastic nephroma - Prenatal diagnosis [11]
Mesoectodermal dysplasia ( Ellis-van Creveld syndrome [33] )
Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type ( Langer mesomelic dysplasia [7] )
Metachromatic form of diffuse cerebral sclerosis ( Metachromatic leukodystrophy [22] )
Metachromatic leukodystrophy [22]
Metachromatic leukoencephalopathy ( Metachromatic leukodystrophy [22] )
Metageria ( Acrogeria, Gottron type [5] )
Metaphyseal chondrodysplasia, Jansen type [6]
Metaphyseal chondrodysplasia, Mckusick type ( Cartilage-hair hypoplasia [3] )
Metaphyseal chondrodysplasia, Murk Jansen type ( Metaphyseal chondrodysplasia, Jansen type [6] )
Metaphyseal chondrodysplasia, Schmid type [4]
Metaphyseal chondrodysplasia, recessive type ( Cartilage-hair hypoplasia [3] )
Metaphyseal dysplasia ( Pyle disease [15] )
Metatarsus adductus [8]
Metatropic dwarfism [2]
Metatropic dwarfism, type II ( Kniest dysplasia [4] )
Metatropic dysplasia I ( Metatropic dwarfism [2] )
Metatropic dysplasia II ( Kniest dysplasia [4] )
Methacrylic acid toxicity ( Beta-hydroxyisobutyryl CoA deacylase, deficiency of [1] )
Methacrylic aciduria ( Beta-hydroxyisobutyryl CoA deacylase, deficiency of [1] )
Methionine adenosyltransferase deficiency [1]
Methylmalonic acidemia and homocystinuria, cblC type ( Methylmalonic aciduria and homocystinuria, cblC type [4] )
Methylmalonic aciduria and homocystinuria, cblC type [4]
Methylmalonic aciduria and homocystinuria, vitamin B12-responsive ( Methylmalonic aciduria and homocystinuria, cblC type [4] )
Mevalonate kinase deficiency ( Mevalonic aciduria [2] )
Mevalonic aciduria [2]
Michelin tire baby syndrome [1]
Micro syndrome ( Warburg micro syndrome [4] )
Microcephalic primordial dwarfism I ( Seckel syndrome [9] )
Microcephaly [3]
Microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies ( Nijmegen breakage syndrome [5] )
Microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease ( Mowat-Wilson syndrome [13] )
Microcephaly, mental retardation, and tracheoesophageal fistula syndrome ( Feingold syndrome [5] )
Microcephaly, primary autosomal recessive, 3 [1]
Microcephaly, primary autosomal recessive, 5 [4]
Microcephaly, primary autosomal recessive, 6 [1]
Microcephaly-oculo-digito-esophageal-duodenal syndrome ( Feingold syndrome [5] )
Microcoria, congenital [1]
Microcoria-congenital nephrosis syndrome ( Pierson syndrome [7] )
Microcornea-cataract syndrome ( Cataract-microcornea syndrome [2] )
Microdeletion 3q29 syndrome [1]
Microduplication 22q11.2 [2]
Microgastria [1]
Micrognathia [5]
Microhydranencephaly [1]
Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification ( Desbuquois syndrome [1] )
Microphthalmia [2]
Microphthalmia and esophageal atresia syndrome ( Microphthalmia, syndromic 3 [1] )
Microphthalmia with linear skin defects ( Microphthalmia, syndromic 7 [3] )
Microphthalmia, cataracts, and iris abnormalities ( Microphthalmia, isolated, with coloboma 3 [2] )
Microphthalmia, cataracts, radiculomegaly, and septal heart defects ( Microphthalmia, syndromic 2 [1] )
Microphthalmia, colobomatous, isolated 3 ( Microphthalmia, isolated, with coloboma 3 [2] )
Microphthalmia, dermal aplasia, and sclerocornea ( Microphthalmia, syndromic 7 [3] )
Microphthalmia, isolated, 1 [1]
Microphthalmia, isolated, 3 [1]
Microphthalmia, isolated, with coloboma 3 [2]
Microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen [4]
Microphthalmia, syndromic 1 [1]
Microphthalmia, syndromic 2 [1]
Microphthalmia, syndromic 3 [1]
Microphthalmia, syndromic 7 [3]
Microphthalmia, syndromic 9 [1]
Microphthalmos, autosomal recessive ( Microphthalmia, isolated, 1 [1] )
Micropolygyria with muscular dystrophy ( Fukuyama congenital muscular dystrophy [3] )
Microsomal triglyceride transfer protein deficiency ( Abetalipoproteinemia [1] )
Microtia [6]
Microvillus atrophy, congenital ( Microvillus inclusion disease [10] )
Microvillus inclusion disease [10]
Mid-ureteral stricture, congenital [4]
Middle interhemispheric variant of holoprosencephaly ( Holoprosencephaly, middle interhemispheric variant [5] )
Midline cleft syndrome ( Holoprosencephaly 2 [2] )
Midline defects, X-linked ( Pentalogy of Cantrell [8] )
Migraine, familial hemiplegic 1, with progressive cerebellar ataxia ( Migraine, familial hemiplegic, 1 [2] )
Migraine, familial hemiplegic, 1 [2]
Migraine, sporadic hemiplegic ( Migraine, familial hemiplegic, 1 [2] )
Miller-Dieker lissencephaly syndrome [13]
Minicore myopathy with external ophthalmoplegia [1]
Minicore myopathy, moderate, with hand involvement ( Central core disease of muscle [23] )
Minicore myopathy, severe classic form ( Rigid spine muscular dystrophy 1 [5] )
Miosis, congenital ( Microcoria, congenital [1] )
Mismatch repair cancer syndrome [3]
Mismatch repair deficiency ( Mismatch repair cancer syndrome [3] )
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria [3]
Mitochondrial DNA depletion syndrome, hepatocerebral form, autosomal recessive [3]
Mitochondrial cytopathy ( Kearns-Sayre syndrome [15] )
Mitochondrial myopathy and sideroblastic anemia [1]
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes [40]
Mitochondrial neurogastrointestinal encephalopathy syndrome [2]
Miyoshi myopathy [9]
Moebius congenital oculofacial paralysis ( Moebius syndrome [7] )
Moebius syndrome [7]
Mohr-Tranebjaerg syndrome [1]
Mohr-Wriedt type brachydactyly ( Brachydactyly, type A2 [2] )
Mondini dysplasia ( Cochlear dysplasia [5] )
Mondini-type cochlear malformation ( Cochlear dysplasia [5] )
Mongolian blue spots [7]
Mongolian spot ( Mongolian blue spots [7] )
Monilethrix [2]
Monocarboxylate transporter 8 deficiency ( Allan-Herndon-Dudley syndrome [3] )
Monosomy 18p ( Chromosome 18p deletion syndrome [4] )
Monosomy 1p36 syndrome [3]
Monosomy X ( Turner syndrome [31] )
Moore-Federman syndrome [4]
Morbus Teutschlaender ( Tumoral calcinosis, hyperphosphatemic, familial [4] )
Morning glory disc anomaly [6]
Morning glory syndrome ( Morning glory disc anomaly [6] )
Morquio syndrome ( Mucopolysaccharidosis, type IVB [11] )
Morquio syndrome A ( Mucopolysaccharidosis, type IVA [1] )
Morquio syndrome B ( Mucopolysaccharidosis, type IVB [11] )
Morvan disease ( Syringomyelia [16] )
Morvan disease ( Neuropathy, hereditary sensory and autonomic, type II [7] )
Moth-eaten skeletal dysplasia ( Hydrops-ectopic calcification-moth-eaten skeletal dysplasia [2] )
Mounier-Kuhn syndrome ( Tracheobronchomegaly [9] )
Mowat-Wilson syndrome [13]
Moyamoya disease [91]
Moyamoya disease 2 [1]
Mucolipidosis I ( Neuraminidase deficiency [4] )
Mucolipidosis II [12]
Mucolipidosis III ( Mucolipidosis IIIA [2] )
Mucolipidosis IIIA [2]
Mucolipidosis IV [7]
Mucopolysaccharidosis, type IH [16]
Mucopolysaccharidosis, type II [10]
Mucopolysaccharidosis, type IIIB [2]
Mucopolysaccharidosis, type IS [1]
Mucopolysaccharidosis, type IVA [1]
Mucopolysaccharidosis, type IVB [11]
Mucopolysaccharidosis, type VI [4]
Mucopolysaccharidosis, type VII [3]
Mucosal neuroma syndrome ( Multiple endocrine neoplasia, type IIB [9] )
Mucoviscidosis ( Cystic fibrosis [3] )
Muenke nonsyndromic coronal craniosynostosis ( Muenke syndrome [3] )
Muenke syndrome [3]
Muir-Torre syndrome [12]
Mulibrey nanism [6]
Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies [7]
Mullerian duct cyst [4]
Multicore myopathy with external ophthalmoplegia ( Minicore myopathy with external ophthalmoplegia [1] )
Multicore myopathy, moderate, with hand involvement ( Central core disease of muscle [23] )
Multicore myopathy, severe classic form ( Rigid spine muscular dystrophy 1 [5] )
Multicystic dysplastic kidney ( Kidney, multicystic dysplastic [19] )
Multiminicore disease with external ophthalmoplegia ( Minicore myopathy with external ophthalmoplegia [1] )
Multiminicore disease, moderate, with hand involvement ( Central core disease of muscle [23] )
Multiminicore disease, severe classic form ( Rigid spine muscular dystrophy 1 [5] )
Multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies ( Gorlin syndrome [20] )
Multiple carboxylase deficiency, juvenile-onset ( Biotinidase deficiency [4] )
Multiple carboxylase deficiency, late-onset ( Biotinidase deficiency [4] )
Multiple cartilaginous exostoses ( Exostoses, multiple [57] )
Multiple contractural syndrome, Israeli Bedouin type B ( Lethal congenital contractural syndrome 3 [1] )
Multiple cutaneous and uterine leiomyomata 1 ( Leiomyoma, hereditary multiple, of skin [4] )
Multiple endocrine neoplasia, type I [1]
Multiple endocrine neoplasia, type I - Adrenal glands [4]
Multiple endocrine neoplasia, type I - Digestive system [20]
Multiple endocrine neoplasia, type I - Nervous system [6]
Multiple endocrine neoplasia, type I - Parathyroid glands [9]
Multiple endocrine neoplasia, type I - Respiratory system [7]
Multiple endocrine neoplasia, type I - Thymus gland [8]
Multiple endocrine neoplasia, type IIA [43]
Multiple endocrine neoplasia, type IIB [9]
Multiple endocrine neoplasia, type III ( Multiple endocrine neoplasia, type IIB [9] )
Multiple epiphyseal dysplasia with bilayered patellae ( Epiphyseal dysplasia, multiple, 4 [6] )
Multiple epiphyseal dysplasia with clubfoot ( Epiphyseal dysplasia, multiple, 4 [6] )
Multiple epiphyseal dysplasia, MATN3-related ( Epiphyseal dysplasia, multiple, 5 [2] )
Multiple epiphyseal dysplasia, autosomal recessive ( Epiphyseal dysplasia, multiple, 4 [6] )
Multiple hamartoma syndrome ( Cowden disease [22] )
Multiple lentigines syndrome ( LEOPARD syndrome [38] )
Multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness ( LEOPARD syndrome [38] )
Multiple osteochondromatosis ( Exostoses, multiple [57] )
Multiple pterygium syndrome ( Pterygium syndrome [3] )
Multiple pterygium syndrome, Escobar variant ( Pterygium syndrome [3] )
Multiple pterygium syndrome, lethal type [1]
Multiple pterygium syndrome, nonlethal type ( Pterygium syndrome [3] )
Multiple sclerosis-like disorder ( Leukodystrophy, adult-onset, autosomal dominant [8] )
Multiple system tauopathy with presenile dementia ( Frontotemporal dementia [63] )
Multisynostotic osteodysgenesis with long bone fractures ( Antley-Bixler syndrome [5] )
Multisystem inflammatory disease, neonatal onset ( CINCA syndrome [5] )
Mulvihill-Smith syndrome [1]
Mungan syndrome [1]
Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death ( Crisponi syndrome [1] )
Muscle glycogen phosphorylase deficiency ( Glycogen storage disease V [17] )
Muscle-eye-brain disease [5]
Muscle-liver-brain-eye nanism ( Mulibrey nanism [6] )
Muscular atrophy, infantile ( Spinal muscular atrophy, type I [5] )
Muscular atrophy, juvenile ( Spinal muscular atrophy, type III [1] )
Muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant ( Emery-Dreifuss muscular dystrophy, autosomal dominant [5] )
Muscular dystrophy, Becker type ( Becker muscular dystrophy [8] )
Muscular dystrophy, Duchenne type ( Duchenne muscular dystrophy [17] )
Muscular dystrophy, benign congenital ( Bethlem myopathy [9] )
Muscular dystrophy, congenital [7]
Muscular dystrophy, congenital merosin-deficient [7]
Muscular dystrophy, congenital merosin-deficient, 1A ( Muscular dystrophy, congenital merosin-deficient [7] )
Muscular dystrophy, congenital progressive, with mental retardation ( Fukuyama congenital muscular dystrophy [3] )
Muscular dystrophy, congenital, 1C [1]
Muscular dystrophy, congenital, Eichsfeld type ( Rigid spine muscular dystrophy 1 [5] )
Muscular dystrophy, congenital, Fukuyama type ( Fukuyama congenital muscular dystrophy [3] )
Muscular dystrophy, congenital, due to partial LAMA2 deficiency ( Muscular dystrophy, congenital merosin-deficient [7] )
Muscular dystrophy, congenital, merosin-positive, with early spine rigidity ( Rigid spine muscular dystrophy 1 [5] )
Muscular dystrophy, congenital, type 1D [1]
Muscular dystrophy, congenital, with central nervous system involvement ( Fukuyama congenital muscular dystrophy [3] )
Muscular dystrophy, distal, late-onset, autosomal recessive ( Miyoshi myopathy [9] )
Muscular dystrophy, facioscapulohumeral ( Facioscapulohumeral muscular dystrophy [24] )
Muscular dystrophy, facioscapulohumeral, type 1A ( Facioscapulohumeral muscular dystrophy [24] )
Muscular dystrophy, limb-girdle [2]
Muscular dystrophy, limb-girdle, type 2 ( Muscular dystrophy, limb-girdle, type 2A [4] )
Muscular dystrophy, limb-girdle, type 2A [4]
Muscular dystrophy, limb-girdle, type 2B [3]
Muscular dystrophy, limb-girdle, type 2I [1]
Muscular dystrophy, limb-girdle, type 2L [2]
Muscular dystrophy, limb-girdle, type 3 ( Muscular dystrophy, limb-girdle, type 2B [3] )
Muscular dystrophy, limb-girdle, with Paget disease of bone ( Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia [2] )
Muscular dystrophy, oculopharyngeal ( Oculopharyngeal muscular dystrophy [4] )
Muscular dystrophy, pelvofemoral ( Muscular dystrophy, limb-girdle, type 2A [4] )
Muscular dystrophy, pseudohypertrophic progressive, Becker type ( Becker muscular dystrophy [8] )
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type ( Duchenne muscular dystrophy [17] )
Muscular dystrophy, scleroatonic ( Ullrich congenital muscular dystrophy [2] )
Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ( Emery-Dreifuss muscular dystrophy, X-linked [2] )
Mutilating keratoderma ( Vohwinkel syndrome [16] )
Mutilating keratoderma with ichthyosis ( Vohwinkel syndrome, variant form [3] )
Myasthenia, limb-girdle, familial [4]
Myasthenic myopathy ( Myasthenia, limb-girdle, familial [4] )
Myelomeningocele ( Meningomyelocele [28] )
Myelosyringosis ( Syringomyelia [16] )
Myhre syndrome [4]
Myoclonic dystonia [2]
Myoclonic epilepsy of Lafora [7]
Myoclonic epilepsy of Unverricht and Lundborg [3]
Myoclonic epilepsy with choreoathetosis ( Dentatorubral-pallidoluysian atrophy [2] )
Myoclonus, hereditary essential ( Myoclonic dystonia [2] )
Myoclonus--cherry red spot syndrome ( Neuraminidase deficiency [4] )
Myoclonus-dystonia syndrome ( Myoclonic dystonia [2] )
Myokymia ( Episodic ataxia, type 1 [1] )
Myokymia with periodic ataxia ( Episodic ataxia, type 1 [1] )
Myoneurogastrointestinal encephalopathy syndrome ( Mitochondrial neurogastrointestinal encephalopathy syndrome [2] )
Myopathy with lactic acidosis and sideroblastic anemia ( Mitochondrial myopathy and sideroblastic anemia [1] )
Myopathy, actin, congenital, with cores [2]
Myopathy, actin, congenital, with excess of thin myofilaments ( Nemaline myopathy 3 [4] )
Myopathy, benign congenital, with contractures ( Bethlem myopathy [9] )
Myopathy, centronuclear ( Centronuclear myopathy [35] )
Myopathy, centronuclear, autosomal dominant [2]
Myopathy, congenital, with fiber-type disproportion [5]
Myopathy, desmin-related ( Myopathy, myofibrillar, desmin-related [13] )
Myopathy, desmin-related, associated with mutation in the SEPN1 gene ( Rigid spine muscular dystrophy 1 [5] )
Myopathy, distal 1 [8]
Myopathy, distal, early-onset, autosomal dominant ( Myopathy, distal 1 [8] )
Myopathy, distal, with rimmed vacuoles ( Nonaka myopathy [9] )
Myopathy, early-onset, with progeroid features ( Hutchinson-Gilford progeria syndrome [7] )
Myopathy, late distal hereditary ( Myopathy, distal 1 [8] )
Myopathy, myofibrillar [7]
Myopathy, myofibrillar, ZASP-related [2]
Myopathy, myofibrillar, desmin-related [13]
Myopathy, myofibrillar, filamin C-related ( Filaminopathy, autosomal dominant [6] )
Myopathy, myofibrillar, myotilin-related ( Myotilinopathy [4] )
Myophosphorylase deficiency ( Glycogen storage disease V [17] )
Myopia 13 [1]
Myositis ossificans ( Fibrodysplasia ossificans progressiva [5] )
Myositis ossificans progressiva ( Fibrodysplasia ossificans progressiva [5] )
Myotilinopathy [4]
Myotonic dystrophy 1 ( Dystrophia myotonica [16] )
Myotonic dystrophy 2 ( Dystrophia myotonica 2 [6] )
Myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities ( Schwartz-Jampel syndrome [8] )
Myotonic myopathy, proximal ( Dystrophia myotonica 2 [6] )
Myotubular myopathy 1 ( Centronuclear myopathy [35] )
Myotubular myopathy, X-linked ( Centronuclear myopathy [35] )
Myotubular myopathy, autosomal dominant ( Myopathy, centronuclear, autosomal dominant [2] )
Myxoma, spotty pigmentation, and endocrine overactivity ( Carney complex, type 1 [16] )
Myxoma-adrenocortical dysplasia syndrome ( Carney complex, type 1 [16] )
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Php programming by
Robert Barbey
Edited by Aldo Campana, November 3, 2009
