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Charts - all respondents

The following charts depict the types of data collected in the registry


Diagnosis confirmed through genetic testing

Hair problems

Skin problems

Eye problems

Ear problems

Oral/dental problems

Respiratory problems


Hair problems

Sweating problems

Digestive problems

Kidney/bladder problems

Quality of life issues

Failure to thrive in infancy

Linear growth delay/arrest in infancy

Muscle and joint problems