Rare Disease Library

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky syndrome

Meacham syndrome

Meacham-Winn-Culler syndrome · Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

MEDNIK syndrome

Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

Megacystis-megaureter syndrome

Megaureter-megacystis syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

MEGDEL syndrome

3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

Meigs syndrome

Demons-Meigs syndrome

Melorheostosis with osteopoikilosis

MSBD syndrome · Mixed sclerosing bone dystrophy

MEND syndrome

Male EBP disorder with neurological defects

Menkes disease

Menkes kinky hair disease · MD

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Micro syndrome

WARBM · Warburg micro syndrome

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

MMCAT syndrome

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

MPPC syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Mills syndrome

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

MRCS syndrome

Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Primary progressive aphasia

Mesulam syndrome · PPA

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Steel syndrome

Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome

Torg-Winchester syndrome

Toxic epidermal necrolysis

Lyell syndrome

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

W syndrome

Pallister-W syndrome

West syndrome

X-linked dystonia-parkinsonism

DYT3 · Lubag