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Inherited congenital spastic tetraplegia
2 OMIM references -
3 associated genes
24 connected diseases
No signs/symptoms info
Disease Type of connection
Familial congenital palsy of trochlear nerve
Congenital fibrosis of extraocular muscles
Cornelia de Lange syndrome
Wilson-Turner syndrome
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant nonsyndromic intellectual deficit
Boomerang dysplasia
Chronic myeloid leukemia
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Huntington disease
Juvenile Huntington disease
Papillary or follicular thyroid carcinoma
Pilomatrixoma
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Spinocerebellar ataxia type 1
Spondylocarpotarsal synostosis
Synonym(s):
- Inherited congenital spastic quadriplegia
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ADD3 Q9UEY8601568
GAD1 Q99259605363
KANK1 Q14678607704
No signs/symptoms info available.