Rare Disease Library

Monoamine oxidase A deficiency

Brunner syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

Nail-patella syndrome

Onychoosteodysplasia · Turner-Kieser syndrome

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

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Primary ciliary dyskinesia, Kartagener type

Dextrocardia-bronchiectasis-sinusitis syndrome · Immotile cilia syndrome, Kartagener type

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Stickler syndrome

Hereditary progressive arthroophthalmopathy

Tetramelic monodactyly

Sommer-Hines syndrome

Treacher-Collins syndrome

Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

Werner syndrome

Adult progeria · WS

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

X-linked fetal akinesia syndrome

Holmes-Benacerraf syndrome