Heimler Syndrome 2 (HMLR2)

Alias:
Peroxisome Biogenesis Disorder 4c
Hmlr2
Pbd4c
Peroxisomal Biogenesis Disorder 4c
Heimler Syndrome, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Heimler Syndrome 2, also known as peroxisome biogenesis disorder 4c, is related to cone-rod dystrophy 7. An important gene associated with Heimler Syndrome 2 is PEX6 (Peroxisomal Biogenesis Factor 6). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and amelogenesis imperfecta
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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7
36
11

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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