pontocerebellar hypoplasia type 8
gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.
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Summary
pontocerebellar hypoplasia type 8 is a developmental defect during embryogenesis[1]. It is known by 5 alternative names across languages and contexts.[2]
Key Facts
- pontocerebellar hypoplasia type 8's instance of is recorded as developmental defect during embryogenesis[3].
- pontocerebellar hypoplasia type 8's instance of is recorded as rare disease[4].
- pontocerebellar hypoplasia type 8's instance of is recorded as class of disease[5].
- pontocerebellar hypoplasia type 8 is a type of non-syndromic pontocerebellar hypoplasia[6].
- pontocerebellar hypoplasia type 8's health specialty is recorded as medical genetics[7].
- pontocerebellar hypoplasia type 8's genetic association is recorded as CHMP1A[8].
- pontocerebellar hypoplasia type 8's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060277[9].
- pontocerebellar hypoplasia type 8's exact match is recorded as http://identifiers.org/doid/DOID:0060277[10].
- pontocerebellar hypoplasia type 8's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_324569[11].
- pontocerebellar hypoplasia type 8's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
Why It Matters
pontocerebellar hypoplasia type 8 is known by 5 alternative names across languages and contexts.[2]