aldosterone-producing adenoma with seizures and neurological abnormalities
APA with seizures and neurological abnormalities
exact
Conn adenoma with seizures and neurological abnormalities
exact
PASNA
related
aldosterone-secreting adenoma with seizures and neurological abnormalities
exact
complex neurodevelopmental disorder with or without aldosteronism
exact
primary aldosteronism, seizures, and neurologic abnormalities
exact
An autosomal dominant neurodevelopmental condition related to variants in CACNA1D. Most reported variants are de novo and functional studies have indicated a gain-of-function disease mechanism. This condition is characterized by developmental delay/intellectual disability, autism spectrum disorder, hypotonia and seizures. Other reported features include endocrine abnormalities such as primary aldosteronism and congenital hyperinsulinemic hypoglycemia, self-injurious behavior, facial dysmorphisms, and heart defects.
MONDO:0016525
familial hyperaldosteronism
is_a