Rare Disease Library

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Monoamine oxidase A deficiency

Brunner syndrome

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

NARP syndrome

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

Nevo syndrome

Cerebral gigantism, Nevo type

Nevus comedonicus syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Renal nutcracker syndrome

Left renal vein entrapment syndrome · RNS

Sagliker syndrome

Seckel syndrome

Segmental venous malformation

Bockenheimer syndrome · Genuine diffuse phlebectasia

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Ulnar hypoplasia-split foot syndrome

Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

W syndrome

Pallister-W syndrome

Wieacker-Wolff syndrome

Foot contractures-muscle atrophy-oculomotor apraxia syndrome