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Start free with EleplanCongenital muscular alpha-dystroglycanopathy with brain and eye anomalies
ORPHA:352687Clinical group
Also called Lissencephaly type 2 with muscular and ocular involvement · MDDGA
What it is
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.
Key facts
- Classified as
- Clinical group
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (at birth, Europe)Cobblestone lissencephaly
- Age of onset
- Infancy, NeonatalCobblestone lissencephaly
- Inheritance
- Autosomal recessiveCobblestone lissencephaly
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Genes reported in subtypes
Orphanet records these genes on 4 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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