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Fallot complex-intellectual disability-growth delay syndrome
Disease definition
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.
ORPHA:3304
Classification level: DisorderSummary
Epidemiology
To date, five patients have been reported in two families.
Clinical description
Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of 2nd and 3rd toes have also been recorded. All five patients have severe intellectual deficiency.
Genetic counseling
The condition is probably hereditary, and is transmitted as an autosomal recessive trait.
Additional information
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