osteoporosis, childhood- or juvenile-onset, with developmental delay
MONDO:0859253Mondo
Findings
No curated finding names osteoporosis, childhood- or juvenile-onset, with developmental delay 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
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- OsteopeniaHPOHP:0000938
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 6 reported patients
- SpasticityHPOHP:0001257
- 4 of 6 reported patients
- Premature birthHPOHP:0001622
- 3 of 6 reported patients
- Broad-based gaitHPOHP:0002136
- 2 of 6 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 6 reported patients
- Inability to walkHPOHP:0002540
- 2 of 6 reported patients
- Recurrent fracturesHPOHP:0002757
- 2 of 6 reported patients
- SeizureHPOHP:0001250
- 2 of 6 reported patients
- Simplified gyral patternHPOHP:0009879
- 2 of 6 reported patients
Show the remaining 2
- Thin corpus callosumHPOHP:0033725
- 2 of 6 reported patients
- Focal cortical dysplasiaHPOHP:0032046
- 1 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COPB2HGNC:2232
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2021
Where it sits
- A kind of