Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder.
Kirby
D
D
Jackson
A P
AP
Karbani
G
G
Crow
Y J
YJ
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005334:Fever / Q000150:complications / Q000235:genetics; D006801:Humans; D040582:Inheritance Patterns; D008607:Intellectual Disability / Q000235:genetics*; D007640:Keratoconus / Q000235:genetics*; D008297:Male; D012640:Seizures / Q000235:genetics*; D035781:Siblings; D012848:Sinoatrial Block / Q000235:genetics*; D013577:Syndrome