cranioectodermal dysplasia 5
MONDO:0976269Mondo
Findings
No curated finding names cranioectodermal dysplasia 5 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
- Infantile onset
HPO, annotations 2026-09-02
Features
96 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- BlindnessHPOHP:0000618
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 5 of 5 reported patients
- Broad ribsHPOHP:0000885
- 2 of 2 reported patients
- Chronic bronchitisHPOHP:0004469
- 2 of 2 reported patients
- Coarse hairHPOHP:0002208
- 1 of 1 reported patient
- Cone-shaped epiphyses of the phalanges of the handHPOHP:0010230
- 1 of 1 reported patient
- Cone-shaped epiphysisHPOHP:0010579
- 2 of 2 reported patients
- CoughHPOHP:0012735
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 3 of 3 reported patients
- Delayed ability to standHPOHP:0025335
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
Show the remaining 84
- Elevated circulating creatinine concentrationHPOHP:0003259
- 2 of 2 reported patients
- Fibular hypoplasiaHPOHP:0003038
- 2 of 2 reported patients
- Fine hairHPOHP:0002213
- 2 of 2 reported patients
- Flattened epiphysisHPOHP:0003071
- 2 of 2 reported patients
- Generalized joint hypermobilityHPOHP:0002761
- 1 of 1 reported patient
- GlycosuriaHPOHP:0003076
- 1 of 1 reported patient
Where it sits
- A kind of