DeSanto-Shinawi syndrome due to WAC point mutation
MONDO:0014741Mondo
Findings
No curated finding names DeSanto-Shinawi syndrome due to WAC point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
70 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.
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- 5 of 6 reported patients
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- 4 of 6 reported patients
- Abnormality of the respiratory systemHPOHP:0002086
- Frequent (30% to 79% of cases)
- Abnormality of visionHPOHP:0000504
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
Show the remaining 58
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- Sleep disturbanceHPOHP:0002360
- 2 of 6 reported patients
- Frequent (30% to 79% of cases)
- Square faceHPOHP:0000321
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Abnormal nostril morphologyHPOHP:0005288
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.
- WACHGNC:17327
- Definitive · G2P · Autosomal dominant · 2020
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: DeSanto-Shinawi syndrome due to WAC point mutation
- Also called
- facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation