Term Name: neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
Synonyms: NEDAPA
Definition: A syndrome characterized by mild developmental delay/impaired intellectual development, variable achalasia, and peripheral motor polyneuropathy without endocrine abnormalities that has_material_basis_in homozygous mutation in the NDC1 gene (610115) on chromosome 1p32.
Ontology: Human Disease [DOID:0070807]   ( DOID:0070807 )

Relationships
is a type of: autosomal recessive disease syndrome