LEUKODYSTROPHY, HYPOMYELINATING, 9

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 616140
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0002080) Intention tremor 44 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0001260) Dysarthria 329 / 7739
6
 (HPO:0001347) Hyperreflexia 363 / 7739
7
 (HPO:0001310) Dysmetria 76 / 7739
8
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
9
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
10
 (HPO:0002415) Leukodystrophy 30 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: