leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Findings
No curated finding names leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Definition from the Mondo Disease Ontology (MONDO:0011897), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Childhood onset · Death in early adulthood
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Developmental regressionHPOHP:0002376
- 19 of 19 reported patients
- HypodontiaHPOHP:0000668
- 15 of 19 reported patients
- Abnormality of ocular smooth pursuitHPOHP:0000617
- 13 of 19 reported patients
- Loss of ambulationHPOHP:0002505
- 12 of 19 reported patients
- TremorHPOHP:0001337
- 11 of 19 reported patients
- Hypogonadotropic hypogonadismHPOHP:0000044
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- POLR3AHGNC:30074
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
- Also called
- 4H syndromeHLD7hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadismleukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadismleukoencephalopathy, hypomyelinating, with ataxia and delayed dentition