Spastic paraplegia 63, autosomal recessive

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 615686
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
24482476 [IBIS]
Age of onset: Infancy
24482476 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
 (HPO:0004322) Short stature rare [HPO:skoehler] 24482476 IBIS 1232 / 7739
2
 (HPO:0004325) Decreased body weight 24482476 IBIS 492 / 7739
3
 (HPO:0002518) Abnormality of the periventricular white matter 24482476 IBIS 24 / 7739
4
 (HPO:0006801) Hyperactive deep tendon reflexes 24482476 IBIS 21 / 7739
5
 (HPO:0001258) Spastic paraplegia 24482476 IBIS 97 / 7739
6
 (HPO:0012407) Scissor gait 24482476 IBIS 6 / 7739
7
 (HPO:0001273) Abnormality of the corpus callosum 24482476 IBIS 20 / 7739

Associated genes:

AMPD2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: