Hypomyelinating Leukodystrophy with Hypodontia and Hypogonadotropic Hypogonadism

mutation in POLR3A

Also Known As:

Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism; Ataxia, Delayed Dentition, and Hypomyelination; Leukodystrophy, Hypomyelinating, 7; Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition

Networked: 0 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Stomatognathic Diseases: 705
- Tooth Diseases: 33
  - Tooth Abnormalities: 33
    - Anodontia: 374
      - Hypomyelinating Leukodystrophy with Hypodontia and Hypogonadotropic Hypogonadism
- Stomatognathic System Abnormalities
  - Tooth Abnormalities: 33
    - Anodontia: 374
      - Hypomyelinating Leukodystrophy with Hypodontia and Hypogonadotropic Hypogonadism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Stomatognathic System Abnormalities
    - Tooth Abnormalities: 33
      - Anodontia: 374
        Hypomyelinating Leukodystrophy with Hypodontia and Hypogonadotropic Hypogonadism
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Ataxia: 6364
      - Hypomyelinating Leukodystrophy with Hypodontia and Hypogonadotropic Hypogonadism
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Leukoencephalopathies: 1557
      - Hypomyelinating Leukodystrophy with Hypodontia and Hypogonadotropic Hypogonadism
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Ataxia: 6364
        Hypomyelinating Leukodystrophy with Hypodontia and Hypogonadotropic Hypogonadism
Endocrine System Diseases: 968
- Gonadal Disorders: 30
  - Hypogonadism: 6201
    - Hypomyelinating Leukodystrophy with Hypodontia and Hypogonadotropic Hypogonadism