Seckel syndrome 9
MONDO:0014767Mondo
Findings
No curated finding names Seckel syndrome 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.
Definition from the Mondo Disease Ontology (MONDO:0014767), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
15 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
- 3 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 3 of 3 reported patients
- Long faceHPOHP:0000276
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 3 reported patients
- Narrow faceHPOHP:0000275
- 3 of 3 reported patients
- Protruding earHPOHP:0000411
Show the remaining 3
- AsthmaHPOHP:0002099
- 1 of 3 reported patients
- HypertrichosisHPOHP:0000998
- 1 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 3 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.
- TRAIPHGNC:30764
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Seckel syndrome 9
- Also called
- SCKL9Seckel syndrome caused by mutation in TRAIPSeckel syndrome type 9TRAIP Seckel syndrome