Rare Disease Library

Non-syndromic preaxial polydactyly

Non-syndromic sagittal craniosynostosis

Isolated scaphocephaly · Isolated sagittal craniosynostosis

Non-syndromic syndactyly

Non-syndromic unisutural craniosynostosis

Isolated unisutural craniosynostosis · Non-syndromic single suture synostosis

Noonan syndrome

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Rare non-syndromic genetic deafness

Reticular dysgenesis-like severe combined immunodeficiency

Reticular dysgenesis-like SCID · Activated Rac2 defect

Syndromic aniridia

Syndromic ankyloblepharon filiforme adnatum

Syndromic ankyloblepharon

Syndromic cataract

Syndromic hyperopia

Syndromic nail anomaly

Syndromic obesity

Syndromic recessive X-linked ichthyosis

Syndromic RXLI · Recessive X-linked ichthyosis with extracutaneous manifestations

Trichohepatoenteric syndrome

Syndromic diarrhea · Phenotypic diarrhea

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

X-linked intellectual disability, Armfield type

Armfield syndrome