Table 2. [Select Features of TSEN54 Pontocerebellar Hypoplasia Type 2]. - GeneReviews® - NCBI Bookshelf

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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 2.

Select Features of TSEN54 Pontocerebellar Hypoplasia Type 2

Feature		% of Persons with Feature	Comment
Severe developmental delay		100%
Neurologic	Choreoathetosis	88%	62% w/pyramidal signs
	Pure spasticity	12%
	Epileptic seizures	82%
	Dystonic attacks	33%
Gastrointestinal	Feeding difficulties	100%
Gastrointestinal	GERD	73%
Sleep disorder		96%
Apnea		67%
Recurrent infections		52%

: Based on 33 individuals homozygous for the common missense variant, p.Ala307Ser, from nonconsanguineous parents surviving until age 11 years [Sánchez-Albisua et al 2014]
: GERD = gastroesophageal reflux disease

From: TSEN54 Pontocerebellar Hypoplasia

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van Dijk T, Baas F. TSEN54 Pontocerebellar Hypoplasia. 2009 Sep 8 [Updated 2020 May 28]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Table 2. [Select Features of TSEN54 Pontocerebellar Hypoplasia Type 2].
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