global developmental delay-osteopenia-ectodermal defect syndrome
MONDO:0019129Mondo
Findings
No curated finding names global developmental delay-osteopenia-ectodermal defect syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies.
Definition from the Mondo Disease Ontology (MONDO:0019129), read 2026-09-29. CC BY 4.0.
Features
39 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 dermal melanosome morphologyHPOHP:0011125
- Very frequent (80% to 99% of cases)
- Abnormal temper tantrumsHPOHP:0025160
- Very frequent (80% to 99% of cases)
- Abnormality of hair textureHPOHP:0010719
- Very frequent (80% to 99% of cases)
- Aggressive behaviorHPOHP:0000718
- Very frequent (80% to 99% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Depigmentation/hyperpigmentation of skinHPOHP:0007483
- Very frequent (80% to 99% of cases)
- Epidermal thickeningHPOHP:0011368
- Very frequent (80% to 99% of cases)
- HypocalciuriaHPOHP:0003127
- Very frequent (80% to 99% of cases)
- Hypoplastic sweat glandsHPOHP:0007387
- Very frequent (80% to 99% of cases)
- ImpulsivityHPOHP:0100710
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
Show the remaining 27
- Orthokeratotic hyperkeratosisHPOHP:0025080
- Very frequent (80% to 99% of cases)
- OsteopeniaHPOHP:0000938
- Very frequent (80% to 99% of cases)
- Short attention spanHPOHP:0000736
- Very frequent (80% to 99% of cases)
- Thickened skinHPOHP:0001072
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
Where it sits
- A kind of