Table 2.

FLNA Deficiency: Frequency of Select Features (Males and Females)

Feature% of Persons w/FeatureComment
Seizure disorder75%-90%
Cardiovascular65%Patent ductus arteriosus; dilatation & rupture of thoracic aorta; atrial & ventricular septal defects; valvular dystrophy; vasculopathy &/or coagulopathy → stroke
Pulmonary disease25%Pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis
↓ gastric motility6%Chronic intestinal pseudo-obstruction, feeding difficulties
Joint hypermobility<15%
Distally shortened digits<5%

From: FLNA Deficiency

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