microcephaly, short stature, and impaired glucose metabolism 2
Findings
No curated finding names microcephaly, short stature, and impaired glucose metabolism 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.
Definition from the Mondo Disease Ontology (MONDO:0014785), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- Abnormal vertebral morphologyHPOHP:0003468
- Abnormally high-pitched voiceHPOHP:0001620
- Brisk reflexesHPOHP:0001348
- Delayed pubertyHPOHP:0000823
- DysarthriaHPOHP:0001260
- Gait ataxiaHPOHP:0002066
- Growth delayHPOHP:0001510
- Hearing impairmentHPOHP:0000365
- Intellectual disabilityHPOHP:0001249
Show the remaining 9
- OligodontiaHPOHP:0000677
- Pectus excavatumHPOHP:0000767
- Recurrent hypoglycemiaHPOHP:0001988
- SeizureHPOHP:0001250
- Severe intellectual disabilityHPOHP:0010864
- Short statureHPOHP:0004322
- Small for gestational ageHPOHP:0001518
- Sparse hairHPOHP:0008070
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.
- PPP1R15BHGNC:14951
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · G2P · Autosomal recessive · 2016
Where it sits
Other names
5 names
Resolves to: microcephaly, short stature, and impaired glucose metabolism 2
- Also called
- microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15Bmicrocephaly, short stature, and impaired glucose metabolism type 2MSSGM2PPP1R15B microcephaly, short stature, and impaired glucose metabolism