Individual #00003182

ID_report -
Reference PubMed: Stromme 2002
Remarks family, 2 affected males
Gender M
Consanguinity no
Country Norway
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases EIEE-1
Owner name Johan den Dunnen


Phenotypes

arthrogryposis, lethal, with anterior horn cell disease (LAAHD) (LAAHD)   Add phenotype for this disease

AscendingPhenotype ID     

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Owner     
0000002022 infantile spasms, ECG-hypsarrhythmia, mental retardation, epilepsy - Familial, X-linked recessive - - - - - - Johan den Dunnen



Screenings


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Owner     
0000003099 DNA SEQ - - ARX 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Exon_old     

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Predicted     

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Protein level     
X Maternal (confirmed) +/? g.25022327_25023843del g.25004210_25005726del IVS4-816_Ex5701del/R483fs - ARX_000006 1517 bp deletion intron4/exon 5 PubMed: Stromme 2002, OMIM:var0004 - - Germline yes - - 0 - Johan den Dunnen ARX - - - - - 4i_5 NM_139058.2:c.1449-816_*460del - pathogenic r.del p.? - - - - - - - - - - - - - - - - - - -
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