GAPO syndrome
GAPO syndrome | |
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Classification and external resources | |
OMIM | 230740 |
GAPO syndrome is a rare, autosomal recessive genetic disorder.[1] GAPO is an acronym for growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy.
Genetics
GAPO syndrome is inherited in an autosomal recessive manner.[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
References
External links
- GAPO syndrome at NIH's Office of Rare Diseases