Seckel syndrome 2
MONDO:0011715Mondo
Findings
No curated finding names Seckel syndrome 2 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 RBBP8 gene.
Definition from the Mondo Disease Ontology (MONDO:0011715), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
19 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.
- Abnormally high-pitched voiceHPOHP:0001620
- 4 of 4 reported patients
- Basal ganglia calcificationHPOHP:0002135
- 1 of 1 reported patient
- Cerebellar calcificationsHPOHP:0007352
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 11 of 11 reported patients
- MicrodontiaHPOHP:0000691
- 1 of 1 reported patient
- MicroglossiaHPOHP:0000171
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
Show the remaining 7
- Clinodactyly of the 5th fingerHPOHP:0004209
- Few cafe-au-lait spotsHPOHP:0007429
- HypospadiasHPOHP:0000047
- MicrocephalyHPOHP:0000252
- Mild global developmental delayHPOHP:0011342
- Narrow foreheadHPOHP:0000341
- Prominent noseHPOHP:0000448
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.
- RBBP8HGNC:9891
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
6 names
Resolves to: Seckel syndrome 2
- Also called
- microcephalic primordial dwarfism 2RBBP8 Seckel syndromeSCKL2Seckel syndrome caused by mutation in RBBP8Seckel syndrome type 2Seckel-type dwarfism 2