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Lissencephaly spectrum disorders
rareThe term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.
- Identifiers
- MONDO:0018838 Orphanet:48471
- Part of
- Congenital nervous system disorderDisorder of development or morphogenesisHereditary neurological disease
- Also known as
- Broad gyri of cerebrum · large gyri of cerebrum · Lissencephaly · lissencephaly (disease) · macrogyria
Subtypes
Disease Rare Not rare Subtypes
- Lissencephaly type 3 MONDO:0015148 7
- Lissencephaly with cerebellar hypoplasia MONDO:0019450 6
- Warburg micro syndrome MONDO:0016649 4
- Classic lissencephaly MONDO:0015146 4
- Microlissencephaly MONDO:0015204 3
- Baraitser-Winter cerebrofrontofacial syndrome MONDO:0017579 2
- Cobblestone lissencephaly MONDO:0018869 2
- Lissencephaly spectrum disorder with complex brainstem malformation MONDO:0100472 1
- X-linked lissencephaly with abnormal genitalia MONDO:0010268 ARX
- Cortical dysplasia, complex, with other brain malformations 9 MONDO:0032578 CTNNA2
- Craniotelencephalic dysplasia MONDO:0009042
- Lissencephaly 10 MONDO:0030031 CEP85L
- Lissencephaly 7 with cerebellar hypoplasia MONDO:0014596 CDK5
- Lissencephaly 8 MONDO:0014992 TMTC3
- Massa casaer ceulemans syndrome MONDO:0043123
Projects
Including projects on subtypes.
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