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Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.
Features include always present findings: Basal ganglia calcification, Short stature, Microglossia, and Microdontia and others; and sometimes findings: Ectopic kidney. 21 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 2 | Microcephaly, Primary microcephaly |
RBBP8 function has not been fully characterized.
Seckel syndrome 2 is associated with mutations in the RBBP8 gene on chromosome 18.
Genetic testing for RBBP8 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 11 always present features.
No clinical trials have been registered for Seckel syndrome 2.
2 publications have been identified in PubMed for Seckel syndrome 2. Kisho has analyzed 1 by research type. Research spans Case Report / Case Series (100%).
Zamanian Najafabadi S (2025). [PMID: 40751525](https://pubmed.ncbi.nlm.nih.gov/40751525/). *Arch Iran Med*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Seckel syndrome 2
2 |
Short stature, Growth delay |
Heart and blood vessels | 1 | Heart murmur |
Kidneys and urinary system | 1 | Ectopic kidney |
Brain and nerves | 1 | Mild global developmental delay |
Arms and legs | 1 | Clinodactyly of the 5th finger |