ossification anomalies-psychomotor developmental delay syndrome
MONDO:0019131Mondo
Findings
No curated finding names ossification anomalies-psychomotor developmental delay syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification.
Definition from the Mondo Disease Ontology (MONDO:0019131), read 2026-09-29. CC BY 4.0.
Features
37 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 bone ossificationHPOHP:0011849
- Frequent (30% to 79% of cases)
- Abnormal diaphysis morphologyHPOHP:0000940
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- Generalized bone demineralizationHPOHP:0006462
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Hepatomegaly
Show the remaining 25
- Narrow chestHPOHP:0000774
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- Frequent (30% to 79% of cases)
- Abnormal thorax morphologyHPOHP:0000765
- Occasional (5% to 29% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Occasional (5% to 29% of cases)
- Absent speechHPOHP:0001344
- Occasional (5% to 29% of cases)
- Anteverted naresHPOHP:0000463
- Occasional (5% to 29% of cases)
Where it sits
- A kind of