Infantile osteopetrosis with neuroaxonal dysplasia syndrome

disorder

SNOMED 724226009CUI C4510764

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal myelination

Frequent (30-79%)HP:0012447

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Brain wasting

Frequent (30-79%)HP:0012444

Cranial nerve paralysis

Frequent (30-79%)HP:0006824

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Epilepsy

Frequent (30-79%)HP:0001250

Hypoplastic hippocampus

Frequent (30-79%)HP:0025517

Increased Mineralization of skull

Frequent (30-79%)HP:0004330

Partial or complete agenesis of corpus callosum

Frequent (30-79%)HP:0001338

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Supratentorial atrophy

Frequent (30-79%)HP:0002059

Foetal distress

Occasional (5-29%)HP:0025116

Hearing loss, conductive

Occasional (5-29%)HP:0000405

Pneumonia

Occasional (5-29%)HP:0002090

Related Conditions

Osteopetrosis(parent)

Agenesis of corpus callosum(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Chronic brain syndrome(parent)

Quick Facts

SNOMED CT: 724226009
UMLS CUI: C4510764
Fully Specified Name: Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.