Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (HLD8)

Alias:
Hypomyelinating Leukodystrophy 8 with or Without Oligodontia and-or Hypogonadotropic Hypogonadism
Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome
Cerebellar Hypoplasia with Endosteal Sclerosis
4h Leukodystrophy 2
Hld8
Leukodystrophy, Hypomyelinating, Type 8, with/without Oligodontia and/or Hypogonadotropic Hypogonadism
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism, also known as hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, is related to polr3-related leukodystrophy and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, and has symptoms including cerebellar ataxia, tremor and dysdiadochokinesis. An important gene associated with Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism is POLR3B (RNA Polymerase III Subunit B). Affiliated tissues include bone and brain, and related phenotypes are intellectual disability and abnormal pyramidal sign
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
8
12

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
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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
Journal
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IF
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