Rare Disease Library

Singleton-Merten dysplasia

Singleton-Merten syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Isaacs syndrome

Continuous muscle fiber activity syndrome · Quantal squander syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP 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

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

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

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Mietens syndrome

Intellectual disability, Mietens-Weber type

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Netherton syndrome

Bamboo hair syndrome · Comèl-Netherton syndrome

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

Primary ciliary dyskinesia, Kartagener type

Dextrocardia-bronchiectasis-sinusitis syndrome · Immotile cilia syndrome, Kartagener type

Primary progressive aphasia

Mesulam syndrome · PPA

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome