PONTOCEREBELLAR HYPOPLASIA, TYPE 2E

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615851
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0002510) Spastic tetraplegia 54 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0000737) Irritability 93 / 7739
6
 (HPO:0002179) Opisthotonus 35 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0001371) Flexion contracture 220 / 7739
9
 (HPO:0000939) Osteoporosis 129 / 7739
10
 (HPO:0002650) Scoliosis 705 / 7739
11
 (HPO:0004322) Short stature 1232 / 7739
12
 (HPO:0001319) Neonatal hypotonia 101 / 7739
13
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
14
 (HPO:0002059) Cerebral atrophy 171 / 7739
15
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: