homocystinuria-megaloblastic anemia cblD type
MONDO:0700297Mondo
Findings
No curated finding names homocystinuria-megaloblastic anemia cblD type 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
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 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.
- Absent Achilles reflexHPOHP:0003438
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyperactivityHPOHP:0000752
- 1 of 1 reported patient
- HyperhomocystinemiaHPOHP:0002160
- 2 of 2 reported patients
Show the remaining 14
- HypomethioninemiaHPOHP:0003658
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased circulating folate concentrationHPOHP:0032164
- 1 of 1 reported patient
- Increased mean corpuscular volumeHPOHP:0005518
- 2 of 2 reported patients
- Megaloblastic anemiaHPOHP:0001889
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient