constitutional megaloblastic anemia with severe neurologic disease
MONDO:0013456Mondo
Findings
No curated finding names constitutional megaloblastic anemia with severe neurologic disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
6 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.
- Decreased CSF 5-methyltetrahydrofolate concentrationHPOHP:0012446
- 2 of 2 reported patients
- Increased mean corpuscular volumeHPOHP:0005518
- 3 of 3 reported patients
- Absence seizure with eyelid myocloniaHPOHP:0011149
- 2 of 3 reported patients
- Megaloblastic anemiaHPOHP:0001889
- 2 of 3 reported patients
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 3 reported patients
- Abnormal circulating folate concentrationHPOHP:0040087
- 0 of 3 reported patients
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.
- DHFRHGNC:2861
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: constitutional megaloblastic anemia with severe neurologic disease
- Also called
- DHFR deficiencydihydrofolate reductase deficiency