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chromosome 1q21.1 duplication syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.
Mondo Term and Equivalent IDs
MONDO:0012915:  chromosome 1q21.1 duplication syndrome
GARD:0010591: 
MESH:C567290: 
Orphanet:250994: 
UMLS:C2675891: