PONTOCEREBELLAR HYPOPLASIA, TYPE 2D

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE
CEREBELLO-CEREBRAL ATROPHY, PROGRESSIVE
PCH2D
PCCA
Number of Symptoms 21
OrphanetNr:
OMIM Id: 613811
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000253) Progressive microcephaly 37 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0002510) Spastic tetraplegia 54 / 7739
4
 (HPO:0002360) Sleep disturbance 113 / 7739
5
 (HPO:0002187) Intellectual disability, profound 44 / 7739
6
 (HPO:0000737) Irritability 93 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0001263) Global developmental delay 853 / 7739
9
 (HPO:0002169) Clonus 37 / 7739
10
 (HPO:0002478) Progressive spastic quadriplegia 7 / 7739
11
 (HPO:0003121) Limb joint contracture 8 / 7739
12
 (HPO:0001371) Flexion contracture 220 / 7739
13
 (HPO:0002059) Cerebral atrophy 171 / 7739
14
 (HPO:0012448) Delayed myelination 51 / 7739
15
 (HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
16
 (OMIM) Cerebral atrophy, progressive, from anterior to posterior 1 / 7739
17
 (HPO:0001272) Cerebellar atrophy 197 / 7739
18
 (OMIM) Decreased white matter volume 2 / 7739
19
 (OMIM) Chorea, mild (in some) 2 / 7739
20
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
21
 (OMIM) Cerebellar atrophy, progressive 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).

For a general ...
Clinical Description OMIM Ben-Zeev et al. (2003) reported 4 unrelated patients with profound mental retardation, postnatal progressive microcephaly, spasticity, and progressive cerebellocerebral atrophy (PCCA). All patients were from nonconsanguineous Sephardic Jewish families: 2 were of Iraqi origin, and 2 were of ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing, Agamy et al. (2010) identified homozygous or compound heterozygous mutations in the SEPSECS gene (613009.0001 and 613009.0002) on chromosome 4p15 in 4 unrelated patients of Iraqi or Iraqi/Moroccan descent ...