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West syndrome
2 OMIM references -
6 associated genes
50 connected diseases
No signs/symptoms info
Disease Type of connection
Early infantile epileptic encephalopathy
X-linked non-syndromic intellectual deficit
Autosomal dominant nonsyndromic intellectual deficit
Atypical Rett syndrome
Autosomal recessive nonsyndromic intellectual deficit
Benign familial infantile seizures
Benign familial neonatal-infantile seizures
Dravet syndrome
Generalized epilepsy with febrile seizures-plus context
Infantile epileptic-dyskinetic encephalopathy
Micrencephaly - corpus callosum agenesis - abnormal genitalia
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Paroxysmal nocturnal hemoglobinuria
Partington syndrome
Spasticity - intellectual deficit - X-linked epilepsy
X-linked lissencephaly with abnormal genitalia
Familial isolated dilated cardiomyopathy
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
Young adult-onset Parkinsonism
Spinocerebellar ataxia type 14
T-B+ severe combined immunodeficiency due to CD45 deficiency
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Baraitser-Winter syndrome
Chronic myeloid leukemia
Familial amyloid polyneuropathy
Giant cell glioblastoma
Gliosarcoma
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Severe intellectual deficit and progressive spastic paraplegia
Syndromic diarrhea
Transthyretin-related familial amyloid cardiomyopathy
CLOVE syndrome
Cowden syndrome
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Metachondromatosis
Noonan syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Familial prostate cancer
Romano-Ward syndrome
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Synonym(s):
- Infantile spasms
- Intellectual deficit - hypsarrhythmia
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.