All individuals with variants in gene DNAJC3

8 entries on 1 page. Showing entries 1 - 8.
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VIP     
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Treatment     
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00431246 Fam1PatII2(61691) PubMed: Synofzik 2014, PubMed: Yepez 2022 2-generation family, 2 affected brothers/1 sister, unaffected heterozygous carrier parents M yes Turkey - - - - - NDD see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI ((0.05-0.10); 18y-diabetes, insulin treatment; 6y-hypacusis; 6y-gait disturbance; afferent ataxia; no lower-limb areflexia; Babinski sign; motor evoked potential not evoked to all limbs, tibial sensory evoked potential not evoked 1 3 Johan den Dunnen
00431247 Fam1PatII3(61693) PubMed: Synofzik 2014, PubMed: Yepez 2022 sister F yes Turkey - - - - - NDD see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI ((<0.03); 18y-diabetes, insulin treatment; 27y-hypacusis; 34y-gait disturbance; afferent ataxia; lower-limb areflexia; no Babinski sign; motor evoked potential not evoked to all limbs, tibial sensory evoked potential not evoked 1 1 Johan den Dunnen
00431248 Fam1PatII4(61695) PubMed: Synofzik 2014, PubMed: Yepez 2022 brother M yes Turkey - - - - - NDD see paper; ..., small height (0.25), low weight (0.10), reduced BMI (0.25-0.50); 15y-diabetes, insulin treatment; 24y-hypacusis; 39y-gait disturbance; afferent ataxia; lower-limb areflexia; no Babinski sign; motor evoked potential not evoked to all limbs, tibial sensory evoked potential not evoked 1 1 Johan den Dunnen
00431249 Fam2PatII1(66050) PubMed: Synofzik 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Germany - - - - - NDD see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI (0.25-0.50); 14y-diabetes, insulin treatment; 2y-hypacusis; 2y-gait disturbance; afferent ataxia; lower-limb areflexia; Babinski sign; hearing impairment 1 2 Johan den Dunnen
00431250 Fam2PatII2(66051) PubMed: Synofzik 2014 sister F yes Germany - - - - - NDD see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI (0.25-0.50); 11y-diabetes, insulin treatment; 11y-gait disturbance; afferent ataxia; no lower-limb areflexia; no Babinski sign; hearing impairment 1 1 Johan den Dunnen
00431251 Fam PubMed: Synofzik 2014 - - - - - - - - - ? - 1 1 Johan den Dunnen
00431252 Fam PubMed: Synofzik 2014 - - - - - - - - - ? - 1 1 Johan den Dunnen
00431253 Fam PubMed: Synofzik 2014 - - - - - - - - - ? - 2 1 Johan den Dunnen
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