Spastic Paraplegia with Neuropathy and Poikiloderma

Alias:
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic Paraplegia Neuropathy Poikiloderma
Antinolo-Nieto-Borrego Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia with Neuropathy and Poikiloderma, also known as spastic paraplegia-neuropathy-poikiloderma syndrome, is related to hereditary spastic paraplegia and paraplegia. Affiliated tissues include spinal cord and skin, and related phenotypes are demyelinating peripheral neuropathy and spastic gait

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
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--
1

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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