Infantile osteopetrosis with neuroaxonal dysplasia

Orpha code: 85179OMIM code: 600329

Definition

This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.

Disease data

Classification

Malformation syndrome

ORPHA code

85179

OMIM code

600329

ICD10 code

Q78.2

ICD11 code

*Soruce

No additional description.

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Description of the disease *