X-linked intellectual deficit - spastic quadriparesis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 2
OrphanetNr: 163982
OMIM Id: 309640
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 9 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0006983) Slowly progressive spastic quadriparesis 1 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: