Symptoms of Deafness, dystonia, and cerebral hypomyelination

Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database.

Signs and Symptoms

• Optic atrophy
• Seizures
• Abnormal facial shape
• Abnormal pyramidal signs
• Cerebellar atrophy
• Cerebral atrophy
• Cerebral hypomyelination
• CNS hypomyelination
• Dystonia
• Failure to thrive
• Intellectual disability
• Microcephaly
• Sensorineural hearing impairment
• Strabismus
• Tetraplegia
• X-linked recessive inheritance

Last updated: 1/1/2017

Source: GARD (NIH)¹

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Symptoms and clinical features of the condition may include:² Clinical Features of Deafness, Dystonia, And Cerebral Hypomyelination:

• Microcephaly
• Sensorineural hearing impairment
• Strabismus
• Optic atrophy
• Intellectual disability
• Seizures
• Global developmental delay
• Cerebellar atrophy
• Dystonia
• X-linked recessive inheritance
• Failure to thrive
• Abnormal facial shape
• Cerebral atrophy
• Tetraplegia
• CNS hypomyelination
• Cerebral hypomyelination
• Abnormal pyramidal signs
• Intellectual disability, severe

Symptoms

Read more about symptoms of related disorders:

• Symptoms of Deafness
• Symptoms of Dystonias

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References

1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 12472/ deafness-dystonia-and-cerebral-hypomyelination
2. Source: Human Phenotype Ontology

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.