Rare Disease Library

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

TELO2-related intellectual disability-neurodevelopmental disorder

You-Hoover-Fong syndrome

Tetramelic monodactyly

Sommer-Hines syndrome

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

Werner syndrome

Adult progeria · WS

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome

Young syndrome

Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome