Rare Disease Library

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

Duane retraction syndrome

DRS · DURS

Lethal short-limb dwarfism, McAlister-Crane type

McAlister-Crane syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Oligocone trichromacy

Oligocone syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Weaver syndrome

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