Symmetrical thalamic calcifications

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 1314
OMIM Id:
ICD-10: G93.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 29 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare neurologic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
2
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
3
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
4
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
5
 (HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
6
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
7
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
8
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
9
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: