infantile osteopetrosis with neuroaxonal dysplasia
MONDO:0010866Mondo
Findings
No curated finding names infantile osteopetrosis with neuroaxonal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
Definition from the Mondo Disease Ontology (MONDO:0010866), read 2026-09-29. CC BY 4.0.
Features
15 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 myelinationHPOHP:0012447
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- Brain atrophyHPOHP:0012444
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- Frequent (30% to 79% of cases)
- Cranial nerve paralysisHPOHP:0006824
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Hypoplastic hippocampusHPOHP:0025517
- Frequent (30% to 79% of cases)
- Increased skull ossificationHPOHP:0004330
- Frequent (30% to 79% of cases)
- Partial agenesis of the corpus callosumHPOHP:0001338
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
Show the remaining 3
- Conductive hearing impairmentHPOHP:0000405
- Occasional (5% to 29% of cases)
- Fetal distressHPOHP:0025116
- Occasional (5% to 29% of cases)
- PneumoniaHPOHP:0002090
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
- Narrower terms (1)