Individual #00208951

ID_report -
Reference PubMed: Castellotti 2011
Remarks -
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VIP 0
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Treatment -
Panel size 1
Diseases EAOH
Owner name Sergio Piñeiro


Phenotypes

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

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Owner     
0000157558 Severe gait limb ataxia. Moderate dysarthria, defects of saccadic initiation and choreoathetosis. Mild distal weakness lower and upper limbs, muscular wasting, cognitive impairment and decreased vibration sense lower limbs. Nystagmus, Babinksi sign and deep tendon reflexes lower limbs absent. Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro



Screenings


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Owner     
0000210006 DNA SEQ blood - APTX 1 Sergio Piñeiro



Variants

1 entry on 1 page. Showing entry 1.
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9 Both (homozygous) +/+ g.32973609G>A - - - APTX_000024 - PubMed: Castellotti 2011 - - Germline - - - 0 - Sergio Piñeiro APTX - - - - - 9 NM_175073.2:c.916C>T - pathogenic (recessive) r.(?) p.(Arg306*) - - - - - - - - - - - - - - - - - - -
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