Rare Disease Library

Kabuki syndrome

Kabuki make-up syndrome · Niikawa-Kuroki syndrome

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Tonoki-Ohura-Niikawa syndrome · Cryptomicrotia-brachydactyly syndrome

Isotretinoin-like syndrome

Kawashima syndrome · Microtia-aortic arch syndrome

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

NARP syndrome

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

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

Nevo syndrome

Cerebral gigantism, Nevo type

Nicolau syndrome

Embolia cutis medicamentosa · Livedo-like dermatitis

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type

OBSOLETE: Imaizumi-Kuroki syndrome

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Short stature due to growth hormone qualitative anomaly

Kowarski syndrome