Search Ontology:
Human Disease

neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima

Term ID
DOID:0070807
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. https://pubmed.ncbi.nlm.nih.gov/39003500/
References
Ontology
Human Disease   ( DOID:0070807 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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