An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Gene data from MyGene.info • Click to view on NCBI Gene
inherited bleeding disorder, platelet-type
MONDO:0000009
infantile liver failure
MONDO:0000023
febrile seizures, familial
MONDO:0000032
hereditary hypophosphatemic rickets
MONDO:0000044
hypothyroidism, congenital, nongoitrous
MONDO:0000045
isolated microphthalmia
MONDO:0000062