Ramond-Elliott neurodevelopmental syndrome
MONDO:0980751Mondo
Findings
No curated finding names Ramond-Elliott neurodevelopmental syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Third trimester onset
HPO, annotations 2026-09-02
Features
63 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.
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 4 of 4 reported patients
- Delayed ability to walkHPOHP:0031936
- 12 of 12 reported patients
- Delayed pubertyHPOHP:0000823
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 12 of 12 reported patients
- Fetal pericardial effusionHPOHP:0025671
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Lumbar scoliosisHPOHP:0004626
- 1 of 1 reported patient
Show the remaining 51
- MacroglossiaHPOHP:0000158
- 1 of 1 reported patient
- Maintenance insomniaHPOHP:0031355
- 3 of 3 reported patients
- Moderate global developmental delayHPOHP:0011343
- 3 of 3 reported patients
- NephrocalcinosisHPOHP:0000121
- 1 of 1 reported patient
- ObesityHPOHP:0001513
- 1 of 1 reported patient
- OligohydramniosHPOHP:0001562
- 1 of 1 reported patient