cranioectodermal dysplasia 1
Findings
No curated finding names cranioectodermal dysplasia 1 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 IFT122 gene.
Definition from the Mondo Disease Ontology (MONDO:0021093), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
22 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
- 11 of 11 reported patients
- High foreheadHPOHP:0000348
- 2 of 2 reported patients
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
- Narrow chestHPOHP:0000774
- 11 of 11 reported patients
- Protruding earHPOHP:0000411
- 2 of 2 reported patients
- Protuberant abdomenHPOHP:0001538
- 2 of 2 reported patients
- RhizomeliaHPOHP:0008905
Show the remaining 10
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 2 reported patients
- Stage 1 chronic kidney diseaseHPOHP:0012623
- 1 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 1 of 2 reported patients
- Triphalangeal halluxHPOHP:0032612
- 1 of 2 reported patients
- Inguinal herniaHPOHP:0000023
- 4 of 11 reported patients
- Hepatic fibrosisHPOHP:0001395
- 1 of 10 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.
- IFT122HGNC:13556
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: cranioectodermal dysplasia 1
- Also called
- CED1cranioectodermal dysplasia caused by mutation in IFT122cranioectodermal dysplasia type 1IFT122 cranioectodermal dysplasia