Dermatoleukodystrophy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 1659
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
2
(HPO:0012639) Abnormality of nervous system morphology Very frequent [Orphanet] 25 / 7739
3
(HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
4
(HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
5
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
6
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: