Individual #00208956

ID_report 15365154-Fam1
Reference PubMed: Amouri 2004
Remarks family, 5 affected (2F, 3M), unaffacted parents
Gender F;M
Consanguinity -
Country Tunisia
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 5
Diseases EAOH
Owner name Rick van Minkelen


Phenotypes

ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (EAOH) (EAOH)   Add phenotype for this disease

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Owner     
0000157563 ataxic gait, cerebellar ataxia, oculomotor apraxia, distal sensory disturbance, cerebellar atrophy, areflexia, distal muscle wasting, decreased motor nerve action potential, motor nerve conduction velocities and sensory action potentials Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Rick van Minkelen



Screenings


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Owner     
0000210011 DNA SEQ;Southern blood - APTX 1 Rick van Minkelen



Variants

1 entry on 1 page. Showing entry 1.
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AscendingDNA change (genomic) (hg19)     

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Protein level     
9 Both (homozygous) +/+ - pathogenic (recessive) g.(?_32973495)_(32989890_?)del - complete APTX deletion - APTX_000030 - PubMed: Amouri 2004 - - Germline yes - - 0 - Rick van Minkelen APTX - - - - - _1_9_ NM_175073.2:c.0 - r.0? p.0? - - - - - - - - - - - - - - - - - - - -
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