Rare Disease Library

Neurooculocardiogenitourinary syndrome

NOCGUS · Neuro-oculo-cardio-genito-urinary syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

OBSOLETE: Cardioskeletal syndrome

OBSOLETE: Syndrome associated with a congenital cardiopathy

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Oculofaciocardiodental syndrome

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

Otodental syndrome

Globodontia · Otodental dysplasia

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

Pyknoachondrogenesis

Camera syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

SCARF syndrome

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Synaptic congenital myasthenic syndrome

W syndrome

Pallister-W syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

X-linked intellectual disability, Cabezas type

Cabezas syndrome