Lopes-Maciel-Rodan syndrome
MONDO:0054573Mondo
Findings
No curated finding names Lopes-Maciel-Rodan syndrome 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
HPO, annotations 2026-09-02
Features
14 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.
- Abnormal pyramidal signHPOHP:0007256
- 1 of 1 reported patient
- AgitationHPOHP:0000713
- 1 of 1 reported patient
- BradykinesiaHPOHP:0002067
- 1 of 1 reported patient
- Caudate atrophyHPOHP:0002340
- 1 of 1 reported patient
- Cerebellar vermis atrophyHPOHP:0006855
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Motor stereotypyHPOHP:0000733
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
Show the remaining 2
- Sleep disturbanceHPOHP:0002360
- 1 of 1 reported patient
- TremorHPOHP:0001337
- 1 of 1 reported patient
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.
- HTTHGNC:4851
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of