Genitopatellar syndrome
http://dbpedia.org/resource/Genitopatellar_syndrome an entity of type: Thing
Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Additional symptoms include microcephaly, severe psychomotor disability. In 2012, it was shown that mutations in the gene KAT6B cause the syndrome. Genitopatellar syndrome (GTPTS) can be caused by heterozygous mutation in the KAT6B gene on chromosome 10q22. The Say-Barber-Biesecker variant of Ohdo syndrome, which has many overlapping features with GTPTS, can also be caused by heterozygous mutation in the KAT6B gene.
rdf:langString
rdf:langString
Genitopatellar syndrome
rdf:langString
Genitopatellar syndrome
rdf:langString
Genitopatellar syndrome
xsd:integer
34482099
xsd:integer
1096491310
xsd:integer
35131
rdf:langString
Q87.8
xsd:integer
606170
xsd:integer
85201
rdf:langString
Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
rdf:langString
Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Additional symptoms include microcephaly, severe psychomotor disability. In 2012, it was shown that mutations in the gene KAT6B cause the syndrome. Genitopatellar syndrome (GTPTS) can be caused by heterozygous mutation in the KAT6B gene on chromosome 10q22. The Say-Barber-Biesecker variant of Ohdo syndrome, which has many overlapping features with GTPTS, can also be caused by heterozygous mutation in the KAT6B gene.
xsd:nonNegativeInteger
12721
xsd:string
35131
xsd:string
Q87.8
xsd:integer
606170
xsd:string
85201