microcephaly, short stature, and impaired glucose metabolism 1
MONDO:0000208Mondo
Findings
No curated finding names microcephaly, short stature, and impaired glucose metabolism 1 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
- Congenital onset
HPO, annotations 2026-09-02
Features
21 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.
- Diabetes mellitusHPOHP:0000819
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Hyperinsulinemic hypoglycemiaHPOHP:0000825
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Primary microcephalyHPOHP:0011451
- 3 of 3 reported patients · Congenital onset
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Delayed pubertyHPOHP:0000823
- 1 of 3 reported patients
- Delayed thelarcheHPOHP:0025515
- 1 of 3 reported patients
- Dorsocervical fat padHPOHP:0025383
- 1 of 3 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 1 of 3 reported patients
Show the remaining 9
- Joint hypermobilityHPOHP:0001382
- 1 of 3 reported patients
- Low anterior hairlineHPOHP:0000294
- 1 of 3 reported patients
- OsteoporosisHPOHP:0000939
- 1 of 3 reported patients
- Primary amenorrheaHPOHP:0000786
- 1 of 3 reported patients
- ScoliosisHPOHP:0002650
- 1 of 3 reported patients
- Short neckHPOHP:0000470
- 1 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.
- TRMT10AHGNC:28403
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: microcephaly, short stature, and impaired glucose metabolism 1
- Also called
- MSSGM1