PONTOCEREBELLAR HYPOPLASIA, TYPE 10

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr:
OMIM Id: 615803
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:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0002553) Highly arched eyebrow 92 / 7739
3
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0000520) Proptosis 192 / 7739
6
 (HPO:0003196) Short nose 264 / 7739
7
 (HPO:0000431) Wide nasal bridge 290 / 7739
8
 (HPO:0000527) Long eyelashes 46 / 7739
9
 (HPO:0000252) Microcephaly 832 / 7739
10
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
11
 (HPO:0000637) Long palpebral fissure 21 / 7739
12
 (HPO:0000639) Nystagmus 555 / 7739
13
 (HPO:0000565) Esotropia 58 / 7739
14
 (HPO:0000817) Poor eye contact 26 / 7739
15
 (HPO:0001263) Global developmental delay 853 / 7739
16
 (HPO:0001298) Encephalopathy 72 / 7739
17
 (HPO:0001347) Hyperreflexia 363 / 7739
18
 (HPO:0001257) Spasticity 251 / 7739
19
 (HPO:0001344) Absent speech 57 / 7739
20
 (HPO:0001510) Growth delay 295 / 7739
21
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
22
 (HPO:0002119) Ventriculomegaly 253 / 7739
23
 (HPO:0012448) Delayed myelination 51 / 7739
24
 (HPO:0009879) Cortical gyral simplification 24 / 7739
25
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: