cranioectodermal dysplasia 2
Findings
No curated finding names cranioectodermal dysplasia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.
Definition from the Mondo Disease Ontology (MONDO:0013323), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
28 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.
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
- CraniosynostosisHPOHP:0001363
- 2 of 2 reported patients
- DolichocephalyHPOHP:0000268
- 2 of 2 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 2 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 2 of 2 reported patients
- Fused teethHPOHP:0011090
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
Show the remaining 16
- Pectus excavatumHPOHP:0000767
- 2 of 2 reported patients
- RhizomeliaHPOHP:0008905
- 2 of 2 reported patients
- Short neckHPOHP:0000470
- 2 of 2 reported patients
- Simple earHPOHP:0020206
- 2 of 2 reported patients
- SyndactylyHPOHP:0001159
- 2 of 2 reported patients
- TelecanthusHPOHP:0000506
- 2 of 2 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.
- WDR35HGNC:29250
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: cranioectodermal dysplasia 2
- Also called
- cranioectodermal dysplasia caused by mutation in WDR35Cranioectodermal dysplasia type 2WDR35 cranioectodermal dysplasiaWDR35-related cranioectodermal dysplasia