Moyamoya disease with early-onset achalasia
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.
MONDO:0004335
digestive system disorder
is_a
MONDO:0016820
Moyamoya disease
is_a
MYMY6
related
Moyamoya disease 6 with achalasia
related
moyamoya 6 with achalasia
exact