Rare Disease Library

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Progressive supranuclear palsy

PSP syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Ptosis-strabismus-ectopic pupils syndrome

McPherson-Hall syndrome

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Schmitt-Gillenwater-Kelly syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Trichodental syndrome

Kersey syndrome

Trisomy 13 syndrome

Patau syndrome

W syndrome

Pallister-W syndrome

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome