About: http://webisa.webdatacommons.org/71226026

Property	Value
http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://www.w3.org/ns/prov#Entity
http://www.w3.org/ns/prov#value	Fewer than 50 cases have been reported to date, mostly in consanguineous families from the Punjabi region of Pakistan and India.The condition is present at birth.
http://www.w3.org/ns/prov#wasQuotedFrom	orpha.net