Garg-Mishra progeroid syndrome
MONDO:0957953Mondo
Findings
No curated finding names Garg-Mishra progeroid 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
28 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.
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- Broad palmHPOHP:0001169
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Cafe-au-lait spotHPOHP:0000957
- 1 of 1 reported patient
- Coxa valgaHPOHP:0002673
- 1 of 1 reported patient
- Dental crowdingHPOHP:0000678
- 1 of 1 reported patient
- High hypermetropiaHPOHP:0008499
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- MicrophthalmiaHPOHP:0000568
- 1 of 1 reported patient
- Microvesicular hepatic steatosisHPOHP:0001414
- 1 of 1 reported patient
Show the remaining 16
- Narrow chestHPOHP:0000774
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Ovoid vertebral bodiesHPOHP:0003300
- 1 of 1 reported patient
- Persistent open anterior fontanelleHPOHP:0004474
- 1 of 1 reported patient
- PlatyspondylyHPOHP:0000926
- 1 of 1 reported patient
- Postnatal growth retardationHPOHP:0008897
- 2 of 2 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.
- TOMM7HGNC:21648
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of