L1 syndrome (Q6714500)
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hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range
- SPG1
- Adducted Thumb With Mental Retardation
- MASA SYNDROME
- Clasped Thumb and Mental Retardation
- X-linked corpus callosum agenesis
- X-linked complicated hereditary spastic paraplegia type 1
- Spastic Paraplegia 1, X-Linked
- hereditary spastic paraplegia 1
- Spastic Paraplegia, X-linked
- Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
- Gareis-Mason syndrome
- CRASH syndrome
- X-linked spastic paraplegia 1
- Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs
- Thumb, Congenital Clasped, With Mental Retardation
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | L1 syndrome |
hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range |
|
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C129930
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Identifiers
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Wikipedia(5 entries)
- arwiki متلازمة جاريس ميسون
- dewiki L1CAM-Syndrom
- enwiki MASA syndrome
- fiwiki MASA-oireyhtymä
- frwiki Syndrome L1