Pontocerebellar hypoplasia type 3 (Q90430): Difference between revisions
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Hipoplasia pontocerebelar tipo 3, também conhecida como atrofia cerebelar com microcefalia progressiva, é uma forma rara de hipoplasia pontocerebelar com transmissão autossômica recessiva caracterizada no período neonatal por hipotonia e dificuldade de deglutição e desde a infância por convulsões, atrofia óptica e baixa estatura, mas nenhum dos achados clínicos são específicos. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
