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Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
1 associated gene
50 connected diseases
No signs/symptoms info
Disease Type of connection
Inflammatory myofibroblastic tumor
Giant cell glioblastoma
Gliosarcoma
Translocation renal cell carcinoma
Joubert syndrome with renal defect
Juvenile autosomal recessive medullary cystic kidney disease
Senior-Loken syndrome
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive centronuclear myopathy
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
T-B+ severe combined immunodeficiency due to CD45 deficiency
Amyotrophic lateral sclerosis
Retinitis pigmentosa
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Acute promyelocytic leukemia
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Bilateral striopallidodentate calcinosis
Brachytelephalangic chondrodysplasia punctata
Chronic myelomonocytic leukemia
Congenital mesoblastic nephroma
Essential thrombocythemia
Familial medullary thyroid carcinoma
Familial pancreatic carcinoma
Fibrosarcoma
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Li-Fraumeni syndrome
Myeloid neoplasm associated with PDGFRB rearrangement
Neuroblastoma
Papillary or follicular thyroid carcinoma
Papilloma of choroid plexus
Pilocytic astrocytoma
Precursor B-cell acute lymphoblastic leukemia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Unclassified chronic myeloproliferative disease
Familial atrial fibrillation
Familial isolated dilated cardiomyopathy
Muscular dystrophy, Selcen type
Atypical juvenile parkinsonism
Synonym(s):
(no synonyms)

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:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
TNK2 Q07912606994
No signs/symptoms info available.