microcephaly, growth restriction, and increased sister chromatid exchange 2
MONDO:0020628Mondo
Findings
No curated finding names microcephaly, growth restriction, and increased sister chromatid exchange 2 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
- Antenatal onset
HPO, annotations 2026-09-02
Features
13 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.
- Decreased body weightHPOHP:0004325
- 10 of 10 reported patients
- Depletion of mitochondrial DNA in muscle tissueHPOHP:0009141
- 1 of 1 reported patient
- Increased susceptibility to spontaneous sister chromatid exchangeHPOHP:0010998
- 7 of 7 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 10 of 10 reported patients · Antenatal onset
- MicrocephalyHPOHP:0000252
- 10 of 10 reported patients
- Short statureHPOHP:0004322
- 10 of 10 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 8 of 10 reported patients
- Recurrent infectionsHPOHP:0002719
- 3 of 6 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 4 of 9 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 2 of 5 reported patients
- Mild global developmental delayHPOHP:0011342
- 4 of 10 reported patients
- Reduced subcutaneous adipose tissueHPOHP:0003758
- 3 of 10 reported patients
Show the remaining 1
- Malar rashHPOHP:0025300
- 0 of 10 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.
- TOP3AHGNC:11992
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025