Nil-Deshwar neurodevelopmental syndrome
MONDO:0979246Mondo
Findings
No curated finding names Nil-Deshwar neurodevelopmental syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
102 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.
- Absent speechHPOHP:0001344
- 3 of 3 reported patients
- Cardiorespiratory arrestHPOHP:0006543
- 1 of 1 reported patient
- Central sleep apneaHPOHP:0010536
- 1 of 1 reported patient
- Choanal stenosisHPOHP:0000452
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Clonic seizureHPOHP:0020221
- 1 of 1 reported patient
- Delayed ability to crawlHPOHP:0033128
- 3 of 3 reported patients
- Delayed ability to sitHPOHP:0025336
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- FallsHPOHP:0002527
- 1 of 1 reported patient
Show the remaining 90
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Infantile spasmsHPOHP:0012469
- 1 of 1 reported patient
- LaryngomalaciaHPOHP:0001601
- 1 of 1 reported patient