cranioectodermal dysplasia 4
MONDO:0013719Mondo
Findings
No curated finding names cranioectodermal dysplasia 4 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
- Congenital onset
HPO, annotations 2026-09-02
Features
31 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.
- Broad distal phalanx of fingerHPOHP:0009836
- 2 of 2 reported patients
- Broad phalanx of the toesHPOHP:0010174
- 2 of 2 reported patients
- Cutis laxaHPOHP:0000973
- 2 of 2 reported patients
- Hip dysplasiaHPOHP:0001385
- 2 of 2 reported patients
- HypermetropiaHPOHP:0000540
- 2 of 2 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 2 reported patients
- Narrow chestHPOHP:0000774
- 2 of 2 reported patients
- Pectus excavatumHPOHP:0000767
- 2 of 2 reported patients
- Pes valgusHPOHP:0008081
- 2 of 2 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 2 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 2 of 2 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 2 reported patients
Show the remaining 19
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 2 reported patients
- Cutaneous finger syndactylyHPOHP:0010554
- 1 of 2 reported patients
- EpicanthusHPOHP:0000286
- 1 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 2 reported patients
- Full cheeksHPOHP:0000293
- 1 of 2 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 1 of 2 reported patients · Neonatal onset
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.
- WDR19HGNC:18340
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: cranioectodermal dysplasia 4
- Also called
- cranioectodermal dysplasia type 4