neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
MONDO:0979875Mondo
Findings
No curated finding names neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
70 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlacrimaHPOHP:0000522
- 3 of 3 reported patients
- AspirationHPOHP:0002835
- 1 of 1 reported patient
- Avascular necrosisHPOHP:0010885
- 1 of 1 reported patient
- BlindnessHPOHP:0000618
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Coxa varaHPOHP:0002812
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Demyelinating motor neuropathyHPOHP:0007220
- 1 of 1 reported patient
- Dilation of Virchow-Robin spacesHPOHP:0012520
- 2 of 2 reported patients
- Distal amyotrophyHPOHP:0003693
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
- 2 of 2 reported patients
Show the remaining 58
- DysarthriaHPOHP:0001260
- 4 of 4 reported patients
- DysphagiaHPOHP:0002015
- 3 of 3 reported patients
- Elbow contractureHPOHP:0034391
- 1 of 1 reported patient
- EMG: neuropathic changesHPOHP:0003445
- 1 of 1 reported patient
- Episodic vomitingHPOHP:0002572
- 3 of 3 reported patients
- FatigueHPOHP:0012378
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NDC1HGNC:25525
- Moderate · G2P · Autosomal recessive · 2026