Ebstein-Bezieau neurodevelopmental syndrome
MONDO:0981163Mondo
Findings
No curated finding names Ebstein-Bezieau 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
10 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.
- Delayed speech and language developmentHPOHP:0000750
- 19 of 19 reported patients
- Facial shape deformationHPOHP:0011334
- 18 of 20 reported patients
- Intellectual disabilityHPOHP:0001249
- 16 of 18 reported patients
- Motor delayHPOHP:0001270
- 15 of 19 reported patients
- Atypical behaviorHPOHP:0000708
- 9 of 18 reported patients
- Postnatal growth retardationHPOHP:0008897
- 9 of 19 reported patients
- Feeding difficultiesHPOHP:0011968
- 8 of 18 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 17 reported patients
- Decreased body weightHPOHP:0004325
- 4 of 18 reported patients
- Short statureHPOHP:0004322
- 3 of 18 reported patients