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Lissencephaly with cerebellar hypoplasia type D
rareLissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
- Identifiers
- MONDO:0015037 Orphanet:100014
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