ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 615924
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:0001337) Tremor 200 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0000752) Hyperactivity 140 / 7739
4
 (HPO:0001298) Encephalopathy 72 / 7739
5
 (HPO:0002273) Tetraparesis 15 / 7739
6
 (HPO:0000750) Delayed speech and language development 197 / 7739
7
 (HPO:0001336) Myoclonus 115 / 7739
8
 (HPO:0002371) Loss of speech 15 / 7739
9
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
10
 (HPO:0002376) Developmental regression 74 / 7739
11
 (HPO:0001251) Ataxia 413 / 7739
12
 (HPO:0001268) Mental deterioration 88 / 7739
13
 (HPO:0001347) Hyperreflexia 363 / 7739
14
 (HPO:0001257) Spasticity 251 / 7739
15
 (HPO:0001332) Dystonia 197 / 7739
16
 (HPO:0002240) Hepatomegaly rare [HPO:skoehler] 467 / 7739
17
 (HPO:0002155) Hypertriglyceridemia rare [HPO:skoehler] 67 / 7739
18
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739
19
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: