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We don’t have a description for this disease, disorder, or syndrome yet.
Source: GARD Last updated on 05-01-20
100% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Absent speech |
| Ataxia |
30%-79% of people have these symptoms.
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| Dystonia |
| Plantar crease between first and second toes |
| Obesity |
| Cognitive impairment |
| Oculomotor apraxia |
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Rapidly progressive |
| Limb apraxia |
| Hyperphosphatemia |
| Endopolyploidy on chromosome studies of bone marrow |
| Areflexia |
| Autosomal recessive inheritance |
| Cerebellar atrophy |
| Peripheral neuropathy |
| Tetraplegia |
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