All individuals with variants in gene MOGS

23 entries on 1 page. Showing entries 1 - 23.
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00419933 Pat1 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - CDG see paper; ..., brachycephaly; no short palperal fissure; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; retrognathia; no hirsutism; no hand or finger deformities; limb and foot defomities; optic nerve atrophy; strabismus; developmental delay; intellectual disability; hypotonia; neuropathy; sensorineural hearing impairment; 2w-onset seizures, focal seizures; EEG-5y-sharp wave complexs in temporal regions; persistence of primary teeth; osteopenia; scoliosis; low level of IgG (317), IgA (<7), IgM (21); recurrent infections; no hypoventilation; no apnea; no cardiac abnormalities; constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; aminoaciduria; no hydronephrosis; hypoplastic genitalia; VitD deficiency, hyperinsulinemia, hyperparathyroidism, premature adrenarche; bronchiectasis 2 1 Johan den Dunnen
00419934 Pat2 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - CDG see paper; ..., no short palperal fissure; long eyelashes; broad nasal tip or nasal arch; -; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment, optic nerve atrophy; nystagmus; strabismus; astigmatism, exotropia, dry eye; developmental delay; intellectual disability; hypotonia; neuropathy; sensorineural hearing impairment; 2d-onset seizures, focal seizures; EEG-alternating epileptiform activity in both hemisphere; hyperdontia; osteopenia; scoliosis; low level of IgG (142), IgA (17), IgM (21); recurrent infections; no hypoventilation; no apnea; dilated aortic root; constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; no aminoaciduria; hydronephrosis; no hypoplastic genitalia; premature adrenarche, hyperinsulinemia; 2 1 Johan den Dunnen
00419935 Pat3 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - CDG see paper; ..., no short palperal fissure; long eyelashes; broad nasal tip or nasal arch; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; no hand or finger deformities; limb and foot defomities; cortical visual impairment; nystagmus; strabismus; exotropia, dry eye; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; <2m-onset seizures, tonic seizures with eye deviation; EEG-1m-suppression-burst pattern; osteopenia; scoliosis; mildly low level of IgG 645 (698-1560), IgA 37, IgM 28; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; hepatomegaly; no hypoalbuminemia; mild elevated AST and ALT; aminoaciduria; no hydronephrosis; no hypoplastic genitalia; VitD deficiency, premature adrenarche; FXI 52% (74-157), FV 52% (53-136), protein S 50% (55-134); 2 1 Johan den Dunnen
00419936 Pat4 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - CDG see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; cleft palate; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment, optic nerve atrophy; no nystagmus; strabismus; developmental delay; intellectual disability; hypotonia; sensorineural hearing impairment; 2m-onset seizures, focal tonic seizures; EEG-multifocal spikes arising from both central regions; microdontia, Riga-Fede; osteopenia; no scoliosis; low level of IgG; 367 (16m), 487 (20m), normal IgA, IgM; recurrent infections; hypoventilation; apnea; atrial septal defect, PFO, PDA; bicuspid aortic valve; constipation; gastroesophageal reflux; hepatomegaly; hypoalbuminemia; mild elevated AST and ALT; hydronephrosis; no hypoplastic genitalia; congenital hypothyroidism secondary to an ectopic thyroid gland treatment; line associated thrombus, thrombocytopenia, APTT 43 sec (25-35), ATIII 135 % (75-125), F8 163 (50-150); GI bleeding, gut dysmotility 1 1 Johan den Dunnen
00419937 Pat5 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - 3m15d - - - CDG see paper; ..., 3m15d-deceased; brachycephaly; short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; cleft palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; no visual impairment; no nystagmus; no strabismus; developmental delay; hypotonia; 6w-onset seizures, focal seizures; EEG-multifocal spikes; no dental abnormalties; no scoliosis; low level of IgA; recurrent infections; hypoventilation; apnea; PDA, PFO; no constipation; hepatomegaly; hypoalbuminemia; mild elevated AST; no aminoaciduria; hydronephrosis; no hypoplastic genitalia; hepatic thrombosis; coagulation screening negative 2 1 Johan den Dunnen
00419938 Pat6 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - CDG see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment; nystagmus; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; 2d-onset seizures, generalized tonic-clonic seizures; EEG-compatible with West syndrome; delayed eruption; osteopenia; no scoliosis; low level of IgG (135), IgA (<7), IgM (13); recurrent infections; hypoventilation; apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; hepatomegaly, liver steatosis; normal aminotransferase; aminoaciduria; no hydronephrosis; no hypoplastic genitalia; 2 1 Johan den Dunnen
00419939 Pat7 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - CDG see paper; ..., no short palperal fissure; no broad nasal tip or nasal arch; no high-arched palate; no smooth philtrum; no retrognathia; hand or finger deformities; no limb and foot defomities; developmental delay; intellectual disability; hypotonia; 6m-onset seizures; EEG-epileptic cerebral dysfunction (both central regions); no scoliosis; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; aminoaciduria; no hydronephrosis; no hypoplastic genitalia; low TSH and low limit of normal T4; pancreatic dysfunction, eczema, FTT 1 1 Johan den Dunnen
00419940 Pat8 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - CDG see paper; ..., no brachycephaly; no short palperal fissure; no long eyelashes; no broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; no limb and foot defomities; no visual impairment; no nystagmus; no strabismus; small lens opacity (left), hyperopia, astigmatism; developmental delay; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; no seisures; EEG-normal; caries; no scoliosis; recurrent infections; no hypoventilation; no apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia; 1 1 Johan den Dunnen
00419941 Pat9 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - CDG see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; no retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment; no nystagmus; no strabismus; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; no seisures; EEG-abnormal; no dental abnormalties; no bone abnormalties; no scoliosis; hypogammagloblinemia, transient; no recurrent infections; noctural hypoxemia; no apnea; cardiac abnormalities; constipation; hepatomegaly; no hypoalbuminemia; mild transient elevated AST and ALT; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia; laryngomalacia, G-tube, swallow dysfunction, mild pectus excavatum 2 1 Johan den Dunnen
00419942 Pat10 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - CDG see paper; ..., no brachycephaly; no short palperal fissure; long eyelashes; no broad nasal tip or nasal arch; ; no visual impairment; no nystagmus; no strabismus; hyperopia; developmental delay; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; no seisures; EEG-normal; no dental abnormalties; no bone abnormalties; no scoliosis; low level of IgG, IgA, IgM; no recurrent infections; no hypoventilation; central and obstructive apnea; cardiac abnormalities; no constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; no hypoplastic genitalia; laryngomalacia, central apnea 1 1 Johan den Dunnen
00419943 Pat11 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - CDG see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; cortical visual impairment; developmental delay; hypotonia; sensorineural hearing impairment; no seisures; EEG-possible left posterior epileptiform activity; osteopenia; no scoliosis; normal IgM, very low IgG and IgA; recurrent infections; hypoventilation; apnea; intraatrial connection; no constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia; mild left-sided pelvicalyceal dilatation in kidney 2 1 Johan den Dunnen
00419944 Pat12 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - CDG see paper; ..., no brachycephaly; no short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; no high-arched palate; smooth philtrum; no downturned corner of mouth; retrognathia; hirsutism; no hand or finger deformities; no limb and foot defomities; cortical visual impairment; nystagmus; strabismus; hypermetropic astigmatism; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; 2w-onset seizures, tonic seizures, epileptic spasm, focal status; EEG-1m-burst supression and multifocal epileptiform activity; large overbite; no bone abnormalties; no scoliosis; normal IgM, low IgG, IgA; no recurrent infections; no hypoventilation; no apnea; perimembranous ventricular septal defect (closed by 17m); constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild transient elevated AST; no aminoaciduria; 2 1 Johan den Dunnen
00419945 patient PubMed: De Praeter 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Belgium - 74d - - - CDG see paper; ..., 74d-deceased; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; abnormal VER; developmental delay; intellectual disability; hypotonia; demyelinating polyneuropathy; sensorineural hearing impairment; 21d-onset seizures, rhythmic clonic jerks, rhythmic vertical eye movements and tonic spasms; EEG-uppression-burst patterns; scoliosis; low level of IgA; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; hepatomegaly, hepatosplenomegaly; mild elevated AST; hypoplastic genitalia; APTT 63.4 (<37); 2 1 Johan den Dunnen
00419946 patient PubMed: Kim 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - 4m - - - CDG see paper; ..., 4m-deceased; brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; mild anterior subcapsular opacity; developmental delay; intellectual disability; hypotonia; no seisures; low level of IgA, IgM; hypoventilation; apnea; atrial septal defect, LVH; hepatomegaly; ; no hypoplastic genitalia; SIADH, hypothyroidism; thrombocytopenia; 2 1 Johan den Dunnen
00419947 FamPat1 PubMed: Li 2019 2-generation family, affected sisters, unaffected heterozygous carrier parents F - China - 9m - - - CDG see paper; ..., 9m-deceased; long eyelashes; no broad nasal tip or nasal arch; high-arched palate; ; developmental delay; sensorineural hearing impairment; no seisures; immunological abnormalities; cardiac abnormalities; no constipation; hepatomegaly; elevated aminotransferase; no hypoplastic genitalia; central hypothyroidism; 3 2 Johan den Dunnen
00419948 FamPat2 PubMed: Li 2019 sister F - China - 10m - - - CDG see paper; ..., 10m-deceased; short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; high-arched palate; ; ; ; developmental delay; ; sensorineural hearing impairment; no seisures; ; immunological abnormalities; cardiac abnormalities; no constipation; hepatomegaly; elevated aminotransferase; no hypoplastic genitalia; central hypothyroidism; 3 1 Johan den Dunnen
00419949 patient PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - CDG see paper; ..., short palperal fissure; broad nasal tip or nasal arch; ; ; low vision; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; <1m-onset seizures, infantile spasms; EEG-atypical hypsarrhythmia; ; low level of IgG, IgM; recurrent infections; no hypoventilation; no apnea; atrial septal defect, PFO; hepatomegaly; elevated aminotransferase; aminoaciduria; no hypoplastic genitalia; 2 1 Johan den Dunnen
00419950 patient PubMed: Ota 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - 1y - - - CDG see paper; ..., 1y-deceasedbroad nasal tip or nasal arch; ; hirsutism; ; ; developmental delay; ; 21d-onset seizures; ; low level of IgA; recurrent infections; hypoventilation; apnea; cardiomyopathy; hepatomegaly; hydronephrosis; intravascular; hypogonadism 2 1 Johan den Dunnen
00419951 patient PubMed: Lo Barco 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - CDG see paper; ..., long eyelashes; broad nasal tip or nasal arch; no smooth philtrum; retrognathia; hirsutism; visual impairment; nystagmus; developmental delay; intellectual disability; hypotonia; <12m-onset seizures, tonic seizure, spasms; EEG-no hypsarrhythmia, multifocal spikes; bone abnormalties; low IgG2; recurrent infections; gastroesophageal reflux; ; ; elevated cortisol, progesterone, androstenedion; chronic lymphocytosis; 2 1 Johan den Dunnen
00419952 Pat1 PubMed: Anzai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - CDG see paper; ..., short palperal fissure; broad nasal tip or nasal arch; high-arched palate; no smooth philtrum; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; intellectual disability; hypotonia; demyelination; sensorineural hearing impairment; 2m-onset seizures, myoclonic seizures, generalized tonic seizure; EEG-suppression burst pattern, small spike at occipital-parietal-temporal; low IgA (median 21, 10-451), IgG (median 535, 408-1380); recurrent infections; no cardiac abnormalities; hepatomegaly; elevated aminotransferase; hypoplastic genitalia; hyponatremia; thrombocytopenia coagulation; transient atrioventricular block, arthrogryposis 2 1 Johan den Dunnen
00419953 FamPat2 PubMed: Anzai 2021 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Japan - 9m - - - CDG see paper; ..., 9m-deceased; short palperal fissure; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; hypotonia; 17d-onset seizures, myoclonic jerks; EEG-suppression burst pattern; ; low IgA (median 63, 49-102), IgG (median 718, 348-1190); recurrent infections; no hypoventilation; no cardiac abnormalities; hepatomegaly; elevated aminotransferase; ; cirrhosis, arthrogryposis 2 2 Johan den Dunnen
00419954 FamPat3 PubMed: Anzai 2021 brother M no Japan - 9y - - - CDG see paper; ..., 9y-deceased; short palperal fissure; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; hypotonia; 32d-onset seizures, generalized tonic seizure; EEG-suppression burst pattern; ; low IgA (median 19, 11-27), IgG (540, 495-584); recurrent infections; hypoventilation; no cardiac abnormalities; hepatomegaly; elevated aminotransferase and ALT; ; cirrhosis, arthrogryposis 2 1 Johan den Dunnen
00419955 FamPat1/2 PubMed: Sadat 2014 2-generation family, affected brother/sister unaffected heterozygous carrier parents F;M - United States - - - - - CDG see paper; ..., multiple neurologic complications, paradoxical immunologic phenotype, severe hypogammaglobulinemia, limited clinical evidence of infectious diathesis 3 2 Johan den Dunnen
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