Rare Disease Library

Micro syndrome

WARBM · Warburg micro syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM 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

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Mills syndrome

MIRAGE syndrome

Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome · Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome

MMEP syndrome

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

Moebius syndrome

Möbius syndrome

MOMO syndrome

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

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Mounier-Kühn syndrome

Congenital tracheobronchomegaly · Idiopathic tracheobronchomegaly

MRCS syndrome

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

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Muenke syndrome

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

MARCH syndrome

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

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

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Oculomaxillofacial dysostosis

Richieri-Costa-Gorlin syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

PHAVER syndrome

Powell-Chandra-Saal syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome

Primary progressive aphasia

Mesulam syndrome · PPA

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Pseudo-Meigs syndrome

Pseudo-Demons-Meigs syndrome

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Radiculomegaly of canine teeth- congenital cataract

Marashi-Gorlin syndrome

RIN2 syndrome

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