Ceroid Lipofuscinosis, Neuronal, 7 (CLN7)

Alias:
Neuronal Ceroid Lipofuscinosis 7
Cln7
Cln7 Disease
Mfsd8-Related Neuronal Ceroid Lipofuscinosis
Lipofuscinosis, Ceroid, Neuronal, Type 7
Turkish Variant Late Infantile Ncl
Cln7 Disease, Late Infantile
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ceroid Lipofuscinosis, Neuronal, 7, also known as neuronal ceroid lipofuscinosis 7, is related to ceroid lipofuscinosis, neuronal, 6a and peripheral retinal degeneration, and has symptoms including ataxia and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 7 is MFSD8 (Major Facilitator Superfamily Domain Containing 8). Affiliated tissues include eye and brain, and related phenotypes are eeg abnormality and ataxia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
13
72
40

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
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
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IF
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