Rare Disease Library

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

Infantile-onset spinocerebellar ataxia

IOSCA · Ohaha syndrome

Iridocorneal endothelial syndrome

ICE syndrome

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy 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

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Li-Fraumeni syndrome

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Martínez-Frías syndrome

Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Miller Fisher syndrome

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

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Multiple synostoses syndrome

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

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome

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

5q- syndrome · MDS

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Neuhauser-Eichner-Opitz syndrome

Recurrent encephalophathy of childhood

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Neurofaciodigitorenal syndrome

Freire Maia-Pinheiro-Opitz syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Odonto-tricho-ungual-digito-palmar syndrome

OTUDP syndrome · Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type

Odontotrichomelic syndrome

Freire-Maia syndrome

Ogden syndrome

Premature aging appearance-developmental delay-cardiac arrhythmia syndrome

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Okamoto syndrome

Okihiro syndrome

Duane-radial ray syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Omenn syndrome

Combined immunodeficiency with hypereosinophilia

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome