Pontocerebellar hypoplasia type 3 (Q90430): Difference between revisions
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13 August 2026
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Latest revision as of 17:24, 15 August 2026
Pontocerebellar hypoplasia type 3, also known as cerebellar atrophy with progressive microcephaly, is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterised neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_378477807 |
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| English | Pontocerebellar hypoplasia type 3 |
Pontocerebellar hypoplasia type 3, also known as cerebellar atrophy with progressive microcephaly, is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterised neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific. |
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CID11:ID_378477807
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dki-india-ID_378477807
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Concluído
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13 August 2026
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