neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
MONDO:0976131Mondo
Findings
No curated finding names neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia 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
- Congenital onset
HPO, annotations 2026-09-02
Features
40 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.
- Abnormal facial shapeHPOHP:0001999
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- AgammaglobulinemiaHPOHP:0004432
- 4 of 4 reported patients
- Axial hypotoniaHPOHP:0008936
- 5 of 5 reported patients
- Central hypothyroidismHPOHP:0011787
- 1 of 1 reported patient
- Decreased body weightHPOHP:0004325
- 4 of 4 reported patients
- Episodic vomitingHPOHP:0002572
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hypoplasia of the thymusHPOHP:0000778
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 1 of 1 reported patient
- Reduced eye contactHPOHP:0000817
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 2 of 2 reported patients
Show the remaining 28
- Respiratory insufficiencyHPOHP:0002093
- 2 of 2 reported patients
- SepsisHPOHP:0100806
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 2 of 2 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 5 of 5 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- Full cheeksHPOHP:0000293
- 3 of 4 reported patients