Spastic Paraplegia 51, Autosomal Recessive (SPG51)

Alias:
Cerebral Palsy, Spastic Quadriplegic, 4, Formerly
Spg51
Cerebral Palsy, Spastic Quadriplegic 4
Hereditary Spastic Paraplegia 51
Cpsq4, Formerly
Cpsq4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 51, Autosomal Recessive, also known as cerebral palsy, spastic quadriplegic, 4, formerly, is related to hereditary spastic paraplegia 51 and spastic quadriplegic cerebral palsy, and has symptoms including seizures An important gene associated with Spastic Paraplegia 51, Autosomal Recessive is AP4E1 (Adaptor Related Protein Complex 4 Subunit Epsilon 1). Affiliated tissues include brain and t cells, and related phenotypes are hyperreflexia and hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
1
9
6

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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