AGENESIS OF CEREBRAL WHITE MATTER

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr:
OMIM Id: 202600
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:0001249) Intellectual disability 1089 / 7739
2
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
 (HPO:0200017) Cerebral white matter agenesis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Waggoner et al. (1942) described 6 sisters in a sibship of 11 with agenesis of the white matter and mental retardation, surviving to adulthood. The family was of Finnish extraction. No parental consanguinity was known.

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