All individuals with variants in gene TIMMDC1

6 entries on 1 page. Showing entries 1 - 6.
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00034216 family PubMed: Kumar 2015, PubMed: Kumar 2015, PubMed: Kumar 2022 3-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/sibs F;M yes - Middle East - - - - neurodegeneration see paper; infantile-onset neurodegenerative disorder, predominant sensorimotor axonal neuropathy, optic atrophy, cognitive deficit 1 2 Johan den Dunnen
00412091 199700 - - M no Germany - - - - - MC1DN31 (+) Intellectual disability,(+) Muscle weakness,(+) Hypoplasia of the corpus callosum,(+) Lactic acidosis,(+) Abnormal activity of mitochondrial respiratory chain 2 1 Andreas Laner
00428051 Pat35791 PubMed: Kremer 2017, PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Greece - 02y06m - - - ? 30m-died; born at term, uneventful twin pregnancy (dizygotic twins), cesarean section;, weight 2450 g, length 48 cm, OFC 33 cm; no dysmorphism, shortly after birth muscular hypotonia, poor feeding behavior; <1y-developmental delay, failure to thrive; sensorineural deafness; MRI brain enlarged ventricles, megacisterna magna; severe isolated complex I deficiency (0.16 lowest control); muscle wasting, dyskinetic movement disorder, never achieved developmental milestones, recurrent respiratory infections 1 1 Johan den Dunnen
00428052 Pat66744 PubMed: Kremer 2017, PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Africa-N 01y08m - - - ? 20m-died; normal pregnancy, delivery, birth parameters; 6m-muscular hypotonia, delayed motor milestones, nystagmus, EEG evoked visual potentials; acute episode with abnormal eye movements, myoclonus, loss of consciousness, followed by cerebellar syndrome; CT scan hypersignal basal ganglia; mildly elevated blood lactate levels; NMR brain imaging normal; 1y-profound hypotonia, cerebellar syndrome, severe dysmetria, delayed mental development, peripheral neuropathy 1 1 Johan den Dunnen
00428053 Pat96687 PubMed: Kremer 2017, PubMed: Yepez 2022 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents, 2 older siblings died due to unexplained neurodegenerative disorders with severe epilepsy M no Germany - - - - - ? uneventful pregnancy, birth spontaneous delivery, weight 4180 g, length 57 cm, OFC 36 cm; 3m-poor feeding behaviour, muscular hypotonia, failure to thrive, developmental delay, muscle wasting; severe cognitive/language impairment, never walked; 4y-severe therapy-resistant epilepsy, MRI brain normal; two older siblings died due to unexplained neurodegenerative disorders with severe epilepsy 1 3 Johan den Dunnen
00428054 family PubMed: Naber 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M no Netherlands - - - - - ? see paper 2 2 Johan den Dunnen
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