DERMATOLEUKODYSTROPHY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 221790
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000448) Prominent nose 56 / 7739
2
 (HPO:0000400) Macrotia 108 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0001176) Large hands 43 / 7739
5
 (HPO:0001833) Long foot 33 / 7739
6
 (HPO:0100678) Premature skin wrinkling 25 / 7739
7
 (HPO:0001072) Thickened skin 87 / 7739
8
 (HPO:0005328) Progeroid facial appearance 13 / 7739
9
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
10
 (OMIM) Skin hypercellularity 1 / 7739
11
 (OMIM) Motor impairment 2 / 7739
12
 (OMIM) Leukodystrophy with multiple axonal, oligodendrocytic and Schwann cell spheroids containing granules like ceroid-lipofuscin bodies 1 / 7739
13
 (OMIM) Skin sclerosis 1 / 7739
14
 (OMIM) Thickened wrinkled skin 1 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Large hands and feet 3 / 7739
17
 (OMIM) Creased skin 1 / 7739
18
 (HPO:0002415) Leukodystrophy 30 / 7739
19
 (OMIM) Progressive cerebral disease 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: