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Start free with EleplanMiller-Dieker syndrome
ORPHA:531Malformation syndrome
Also called Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3 · Telomeric deletion 17p
What it is
A rare contiguous gene deletion syndrome of chromosome 17p13.3 characterized by classical lissencephaly, distinct facial dysmorphism, seizures and severe to profound intellectual disability. Additional congenital malformations can be part of the condition.
Key facts
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
10These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
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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