Skraban-Deardorff syndrome
MONDO:0054636Mondo
Findings
No curated finding names Skraban-Deardorff syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
92 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
- 15 of 15 reported patients
- Intellectual disabilityHPOHP:0001249
- 15 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Thick lower lip vermilionHPOHP:0000179
- 1 of 1 reported patient
- Happy demeanorHPOHP:0040082
- 10 of 11 reported patients
- Hyperplasia of the maxillaHPOHP:0430028
- 13 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Thick upper lip vermilionHPOHP:0000215
- 13 of 15 reported patients
- Widely spaced teethHPOHP:0000687
- 13 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- 11 of 13 reported patients
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- 12 of 15 reported patients
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Everted upper lip vermilionHPOHP:0010803
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
Show the remaining 80
- HypotoniaHPOHP:0001252
- 9 of 12 reported patients
- Frequent (30% to 79% of cases)
- Abnormally large globeHPOHP:0001090
- 11 of 15 reported patients
- Absent cupid's bowHPOHP:0010800
- 11 of 15 reported patients
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- 11 of 15 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 9 of 13 reported patients
- Occasional (5% to 29% of cases)
- Wide mouthHPOHP:0000154
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.
- WDR26HGNC:21208
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: Skraban-Deardorff syndrome
- Also called
- WDR26-Related Disorder