Rare Disease Library

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

Fragile X syndrome

FRAXA syndrome · FXS

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

Partington-Anderson syndrome

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Short stature-wormian bones-dextrocardia syndrome

Stratton-Parker syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Trisomy 13 syndrome

Patau syndrome