Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities (NEDSWMA)

Alias:
Cerebral Palsy, Spastic Quadriplegic, 1
Nedswma
Cerebral Palsy, Spastic Quadriplegic, 1, Formerly
Palsy, Cerebral, Spastic Quadriplegic, Type 1
Cpsq1, Formerly
Cpsq1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities, also known as cerebral palsy, spastic quadriplegic, 1, is related to cerebral palsy and papillon-lefevre syndrome. An important gene associated with Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities is HPDL (4-Hydroxyphenylpyruvate Dioxygenase Like). Affiliated tissues include brain, and related phenotypes are intellectual disability and motor delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
19
10

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
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No data available

Disease Model

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

References Literature

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PMID
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IF
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