Hypomyelinating Leukodystrophy 7 (HLD7)

Hypomyelinating Leukodystrophy 7(来自ICD-11)

别称:

Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome

Hypomyelination-Cerebellar Atrophy-Hypoplasia of the Corpus Callosum Syndrome

Tremor-Ataxia-Central Hypomyelination Syndrome

Tach Syndrome

Hypomyelinating Leukodystrophy 7 with or Without Oligodontia and-or Hypogonadotropic Hypogonadism

Ataxia-Delayed Dentition-Hypomyelination Syndrome; Odontoleukodystrophy

Leukodystrophy with Oligodontia

Dentoleukoencephalopathy

Hld7

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hypomyelinating Leukodystrophy 7, also known as leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, is related to leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism and hypomyelinating leukodystrophy, and has symptoms including ataxia, cerebellar ataxia and muscle spasticity. An important gene associated with Hypomyelinating Leukodystrophy 7 is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are Cytosolic sensors of pathogen-associated DNA and RNA Polymerase III Transcription Initiation. Affiliated tissues include eye and brain, and related phenotypes are spasticity and hyperreflexia

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