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GTR Home > Conditions/Phenotypes > Chromosome 1q41-q42 deletion syndrome


1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. [from ORDO]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical features


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