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Start free with EleplanBlepharophimosis-intellectual disability syndrome
ORPHA:293642Clinical group
What it is
A rare group of syndromic intellectual disabilities characterized by global developmental delay (DD)/intellectual disability (ID), blepharophimosis and other craniofacial dysmorphisms, and organ anomalies.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
- Classified as
- Clinical group
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Genes reported in subtypes
Orphanet records these genes on 6 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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