PONTOCEREBELLAR HYPOPLASIA, TYPE 1C

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 616081
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:0000505) Visual impairment 297 / 7739
2
 (HPO:0000365) Hearing impairment 539 / 7739
3
 (HPO:0001285) Spastic tetraparesis 29 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
6
 (HPO:0011968) Feeding difficulties 240 / 7739
7
 (HPO:0001508) Failure to thrive 454 / 7739
8
 (HPO:0002878) Respiratory failure 57 / 7739
9
 (HPO:0007269) Spinal muscular atrophy 24 / 7739
10
 (HPO:0001324) Muscle weakness 859 / 7739
11
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739
12
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
13
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: