Rare Disease Library

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Pectus excavatum-macrocephaly-dysplastic nails syndrome

Zori-Stalker-Williams syndrome

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

Prominent glabella-microcephaly-hypogenitalism syndrome

MacDermot-Winter syndrome

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Talo-patello-scaphoid osteolysis

Singh-Williams-McAlister syndrome

Weaver-Williams syndrome

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

Williams-Campbell syndrome