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Pontocerebellar hypoplasia type 2C(PCH2C)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: PCH2C; TSEN34-Related Pontocerebellar Hypoplasia
Gene (location): TSEN34 (19q13.42)
Monarch Initiative: MONDO:0012891
OMIM®: 612390

Disease characteristics

Excerpted from the GeneReview: TSEN54 Pontocerebellar Hypoplasia
TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family. [from GeneReviews]
Tessa van Dijk  |  Frank Baas   view full author information

Additional description

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).  http://www.omim.org/entry/612390

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Dystonic disorder
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Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Cerebellar vermis hypoplasia
MedGen UID:
Concept ID:
Underdevelopment of the vermis of cerebellum.
Cerebellar hemisphere hypoplasia
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Anatomical Abnormality
MedGen UID:
Concept ID:
Head circumference below 2 standard deviations below the mean for age and gender.
Visual impairment
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Concept ID:
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Recent clinical studies


Hecher L, Harms FL, Lisfeld J, Alawi M, Denecke J, Kutsche K
Neurogenetics 2023 Apr;24(2):79-93. Epub 2023 Jan 19 doi: 10.1007/s10048-023-00709-9. PMID: 36653678

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