Do you know a NGLY1 patient?
If you know a patient with NGLY1-deficiency, or think you do, please contact us immediately.
You can reach us directly at info@ngly1.org
NGLY1 Symptoms
- Global Developmental Delays
- Movement Disorder
- Hypotonia
- Alacrima/Hypolacrima (lack of tears)
- Abnormal EEG
- Elevated Liver Function
- Microcephaly
- Peripheral & Auditory Neuropathy
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