What is ID?
Impaired cognitive ability and adaptive functioning beginning during development.
Symptoms
Delays in learning, speech and behavioral skills.
Genetic causes
Aneuploidies, CNVs and monogenic mutations.
Inheritance pattern
Variable.
Important genes
FMR1, MECP2, ARX and hundreds of others.
Who should be tested?
All children with moderate-severe unexplained ID.
Recommended tests
Karyotype, microarray, WES, Fragile X.
Counseling
Recurrence risk assessment for the family.