Rhombencephalosynapsis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 59315
OMIM Id:
ICD-10: Q04.3
UMLs: C1866130
MeSH:
MedDRA:
Snomed: 442300000

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cerebellar malformation
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
2
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
3
 (HPO:0000271) Abnormality of the face Occasional [Orphanet] 108 / 7739
4
 (HPO:0100842) Septo-optic dysplasia Frequent [Orphanet] 8 / 7739
5
 (HPO:0000478) Abnormality of the eye Occasional [Orphanet] 126 / 7739
6
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
7
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
8
 (HPO:0001155) Abnormality of the hand Occasional [Orphanet] 54 / 7739
9
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
10
 (HPO:0001626) Abnormality of the cardiovascular system Occasional [Orphanet] 73 / 7739
11
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
12
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
13
 (HPO:0010662) Abnormality of the diencephalon Frequent [Orphanet] 6 / 7739
14
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
15
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: