| 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 ) |