Rare Disease Library

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

Sagliker syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Steel syndrome

Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome

Stickler syndrome

Hereditary progressive arthroophthalmopathy

Stimmler syndrome

Stromme syndrome

Jejunal atresia-microcephaly-ocular anomalies syndrome · Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Trisomy 13 syndrome

Patau syndrome

W syndrome

Pallister-W syndrome

White-Sutton syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome