L1 syndrome
(Q6714500)
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
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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Current Data About
L1 syndrome
other details
| aliases |
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 |
| description | 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 |
External Links
| (P486) |
C536029
|
| (P492) |
303350
|
| (P665) |
H01034
H02178 |
| (P668) |
NBK1484
|
| (P699) |
DOID:0060246
DOID:0110762 |
| (P1550) |
2466
|
| (P2892) |
C0795953
|
| (P4229) |
G11.4
|
| (P4317) |
6986
|
| (P5270) |
MONDO_0010559
|
| (P6366) |
2777765347
|
| (P11143) |
MASA syndrome
|
| (P11430) |
DI-00707
|