DOOR Syndrome Flashcards
1
Q
What are the symptoms of DOOR syndrome?
A
Impaired growth in bones Seizures Small head size Dental abnormalities Specific facial features such as large nose Visual impairment Finger-like thumbs
2
Q
What genes are involved in DOOR syndrome?
A
TBC1D24 gene
3
Q
What are the inheritance pattern for DOOR syndrome?
A
Autosomal recessive
4
Q
What is the phenotype for the heterozygous in DOOR syndrome?
A
They are carriers and display no signs or symptoms of disease
