Short stature, Dauber-Argente type
MONDO:0859182Mondo
Findings
No curated finding names Short stature, Dauber-Argente 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
15 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.
- ArachnodactylyHPOHP:0001166
- 2 of 2 reported patients
- Elevated circulating insulin-like growth factor-binding protein acid labile subunit concentrationHPOHP:0034184
- 2 of 2 reported patients
- Long fingersHPOHP:0100807
- 5 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 7 reported patients
- OsteopeniaHPOHP:0000938
- 2 of 2 reported patients
- Postnatal growth retardationHPOHP:0008897
- 7 of 7 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 4 of 4 reported patients
- Short chinHPOHP:0000331
- 7 of 7 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Specific learning disabilityHPOHP:0001328
- 2 of 2 reported patients
- Triangular faceHPOHP:0000325
- 2 of 2 reported patients
- Decreased fibular diameterHPOHP:0031107
- 4 of 5 reported patients
Show the remaining 3
- Fasting hyperinsulinemiaHPOHP:0008283
- 3 of 5 reported patients
- Delayed eruption of teethHPOHP:0000684
- 4 of 7 reported patients
- Long toeHPOHP:0010511
- 2 of 5 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.
- PAPPA2HGNC:14615
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022