PONTOCEREBELLAR HYPOPLASIA, TYPE 2B

General Information (adopted from Orphanet):

Synonyms, Signs: PCH2B
Number of Symptoms 18
OrphanetNr:
OMIM Id: 612389
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000340) Sloping forehead 86 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0002169) Clonus 37 / 7739
4
(HPO:0002179) Opisthotonus 35 / 7739
5
(HPO:0001332) Dystonia 197 / 7739
6
(HPO:0007308) Extrapyramidal dyskinesia 5 / 7739
7
(HPO:0003487) Babinski sign 179 / 7739
8
(HPO:0002509) Limb hypertonia 13 / 7739
9
(HPO:0001250) Seizures 1245 / 7739
10
(HPO:0002072) Chorea 53 / 7739
11
(HPO:0011968) Feeding difficulties 240 / 7739
12
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
13
(HPO:0002365) Hypoplasia of the brainstem 41 / 7739
14
(HPO:0002119) Ventriculomegaly rare [HPO:skoehler] 253 / 7739
15
(HPO:0009879) Cortical gyral simplification rare [HPO:skoehler] 24 / 7739
16
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
17
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
18
(HPO:0002059) Cerebral atrophy rare [HPO:skoehler] 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pontocerebellar hypoplasia (PCH) is 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 ...
Molecular genetics OMIM In a Pakistani individual with PCH2 in whom no mutation in TSEN54 was found, Budde et al. (2008) found homozygosity for a missense mutation in the TSEN2 gene (608753.0001). This mutation was not found in 188 Pakistani, 92 ...