Rare Disease Library

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Progeroid syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Progressive supranuclear palsy

PSP syndrome

Proteus syndrome

Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

Proteus-like syndrome

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Pyknoachondrogenesis

Camera syndrome

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Trisomy 13 syndrome

Patau syndrome

W syndrome

Pallister-W syndrome

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21