Inherited congenital spastic tetraplegia

General Information (adopted from Orphanet):

Synonyms, Signs: Inherited congenital spastic quadriplegia
Number of Symptoms 14
OrphanetNr: 210141
OMIM Id: 603513
612900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic neurological disease
 -Rare genetic disease
Rare neurologic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001347) Hyperreflexia 363 / 7739
5
 (HPO:0100021) Cerebral palsy 36 / 7739
6
 (HPO:0002510) Spastic tetraplegia 54 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0003487) Babinski sign 179 / 7739
9
 (HPO:0001264) Spastic diplegia 24 / 7739
10
 (HPO:0002650) Scoliosis 705 / 7739
11
 (HPO:0001371) Flexion contracture 220 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (HPO:0001425) Heterogeneous 132 / 7739
14
 (HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: