short stature, microcephaly, and endocrine dysfunction
MONDO:0014686Mondo
Findings
No curated finding names short stature, microcephaly, and endocrine dysfunction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 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.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients · Adult onset
- CryptorchidismHPOHP:0000028
- 12 of 12 reported patients · Male
- Disproportionate short-limb short statureHPOHP:0008873
- 2 of 2 reported patients
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients · Adult onset
- Gait disturbanceHPOHP:0001288
- 2 of 2 reported patients · Adult onset
- HypotelorismHPOHP:0000601
- 2 of 2 reported patients · Congenital onset
- Impaired smooth pursuitHPOHP:0007772
- 2 of 2 reported patients · Adult onset
- MicrocephalyHPOHP:0000252
- 5 of 5 reported patients · Congenital onset
- NystagmusHPOHP:0000639
- 2 of 2 reported patients · Adult onset
- Pes cavusHPOHP:0001761
- 2 of 2 reported patients
- Sensory axonal neuropathyHPOHP:0003390
- 2 of 2 reported patients · Adult onset
- Short statureHPOHP:0004322
- 5 of 5 reported patients · Congenital onset
Show the remaining 5
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 2 reported patients · Young adult onset
- Ectopic kidneyHPOHP:0000086
- 1 of 5 reported patients · Congenital onset
- Renal hypoplasiaHPOHP:0000089
- 1 of 5 reported patients
- Unilateral renal agenesisHPOHP:0000122
- 1 of 5 reported patients · Congenital onset
- ApraxiaHPOHP:0002186
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.
- XRCC4HGNC:12831
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025