All individuals with variants in gene ALG6

29 entries on 1 page. Showing entries 1 - 29.
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AscendingIndividual ID     
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VIP     
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Variants     
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00000014 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000016 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00034457 - - - M no Netherlands white - - - none CDG1C Axial hypotonia, limited exercise tolerance, psychomotor developmental delay, inverted nipples , disturbed coagulation pathway 1 1 Anke Rietveld
00079989 - PubMed: Elli et al.2016 - M no (Italy) - - - - - ACRDYS1 IUGR, neonatal hypoglycemia, enamel dysplasia 1 1 Francesca Marta Elli
00079990 - PubMed: Elli et al.2016 - M no (Italy) - - - - - ACRDYS1 IUGR, neonatal hypoglycemia, gastroesophageal reflux, dysmorphic spines 1 1 Francesca Marta Elli
00080137 - PubMed: Muhn et al.2013 - F ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, brachydactily, mental retardation, cone-shaped epiphyses, short neck, cafè-au-lait spots 1 1 Francesca Marta Elli
00080148 - PubMed: Muhn et al.2013 - F ? - - - - - - BDE1 Short stature, short IV metacarpal and distal phalanx of the thumb (I) 1 1 Francesca Marta Elli
00080149 - PubMed: Muhn et al.2013 - F ? - - - - - - ACRDYS1 short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck 1 1 Francesca Marta Elli
00248502 - - - - - - - - - - - DFNB;ARNSHL - 1 2 LOVD
00249648 - - - ? - - - - - - - CDG1C - 2 1 Gert Matthijs
00249649 - - - ? - Ireland - - - - - CDG1C growth retardation, hypotonia, cataracts, enlarged spleen, poor feeding, no cerebellar hypoplasia, normal liver function test 2 1 Gert Matthijs
00249650 - - - ? - South Africa - - - - - CDG1C - 2 1 Gert Matthijs
00249651 - - - ? - Netherlands - - - - - CDG1C - 1 1 Gert Matthijs
00249652 - - - ? - Netherlands - - - - - CDG1C - 1 1 Gert Matthijs
00249653 - - - ? - Netherlands - - - - - CDG1C - 1 1 Gert Matthijs
00249654 - - - ? - Netherlands - - - - - CDG1C - 1 1 Gert Matthijs
00249655 - - - ? - Netherlands - - - - - CDG1C - 1 1 Gert Matthijs
00249656 - - - ? - Italy - - - - - CDG1C - 1 1 Gert Matthijs
00289899 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289900 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 53 Mohammed Faruq
00289901 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304211 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304212 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00310052 - PubMed: Starosta 2020 - F ? United States - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Dehydration (HP:0001944); Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373); Hyperinsulinemia (HP:0000842); Protein-losing enteropathy (HP:0002243); Blindness (HP:0000618); Abnormal aggressive, impulsive or violent behavior (HP:0006919); Hallucinations (HP:0000738); Depressivity (HP:0000716); Delayed puberty (HP:0000823); Carious teeth (HP:0000670); Deep venous thrombosis (HP:0002625); Menorrhagia (HP:0000132); Cholelithiasis (HP:0001081); Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Corpus callosum atrophy (HP:0007371); Pituitary gland cyst (HP:0410278); Deeply set eye (HP:0000490); Malar flattening (HP:0000272); Inverted nipples (HP:0003186); Finger clinodactyly (HP:0040019); Pes planus (HP:0001763); Brisk reflexes (HP:0001348); Failure to thrive (HP:0001508); Caesarian section (HP:0011410); Poor suck (HP:0002033); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); 1 1 Benjamin Billiet
00401506 119P - - F no Spain - - - - - CDG1C, ID - 1 1 Alejandro Brea-Fernández
00409271 ? PubMed: Sabry 2016 - M no - - 00y08m - - - RP59;CDG1BB intra-uterine growth retardation and decreased fetal movements; born at 37 weeks of gestation with a weight of 2090 g (-3.25 SD), a length of 42 cm (-4 SD), an occipitofrontal circumference of 32 cm (-2 SD) and Apgar score 10/10; two episodes of severe bradycardia during the first day of life and was transferred to an intensive care unit; axial hypotonia, peripheral hypertonia, enlarged liver, micropenis and cryptorchidism; transient increase of serum transaminases, renal failure; developed epilepsy; liver sonography: mild dilatation of the biliary duct; little psychomotor acquisitions, no eye contact, poor sucking with frequent regurgitations; failure to thrive; 2 months: fundus: pale papillae, electroretinogram: showed no response to any type of stimulation; brainstem evoked auditory potentials: sensorineural deafness with an auditory threshold of 90 dB (right ear) and 100 dB (left ear); died at 8 months during a status epilepticus 1 1 LOVD
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