Disease #05461 (CDG (glycosylation, congenital disorder of (CDG)))

Official abbreviation CDG
Name glycosylation, congenital disorder of (CDG)
OMIM ID -
Inheritance -
Individuals reported having this disease 86
Phenotype entries for this disease 82
Associated with 10 genes CAMLG, DHRSX, EDEM3, MAN2C1, MOGS, NUS1, SLC39A8, STT3A, STT3B, UGGT1
Associated tissues -
Disease features -
Remarks -
Date created 2018-07-18 09:08:14 +02:00 (CEST)
Date last edited N/A


Individuals

86 entries on 1 page. Showing entries 1 - 86.
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00168052 patient PubMed: Indellicato 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy white 13y - - - CDG includes syndromes previously referred to as SPDRS (salt & pepper develpmental regression syndrome) and Amish type Epilepsy. HP:0002133, HP:0000252, HP:0100704, HP:0001034, HP:0008972, HP:0002151 - ST3GAL5 1 1 Marco Trinchera
00208560 - - - F - - - - - - - CDG - S100A1, SLC35A2 SLC35A2 1 1 Bobby Ng
00208561 - - - F no - - - - - - CDG - SLC35A2 SLC35A2 1 1 Bobby Ng
00226100 P2 - - M no - - - - - - CDG - - CSGALNACT1 2 1 Andreas Janecke
00226101 P3 - - F no - - - - - - CDG - - CSGALNACT1 1 1 Andreas Janecke
00230994 PatET PubMed: Pravata 2020, PubMed: Pravata 2020, Journal: Pravata 2020 2-generation family, 1 affected, unaffected non-carrier parents/relatives M no Estonia - >07y - - - CDG see paper; ... - OGT 1 1 Sander Pajusalu
00295674 - - - M no Mexico - 05y - yes - CDG Delayed psychomotor development. Uncoordinated, wide-based gait. Sialorrhea, constipation, and severe hypolacrimation with blepharitis MRI of the brain showed mild cerebral atrophy, and corpus callosum hypoplasia. Acute liver failure. - NGLY1 2 1 Aida Bertoli-Avella
00376972 Fam1PatIV1 PubMed: Polla 2021, Journal: Polla 2021 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes - Romani - - - - CDG birth-36w, weight 2050g, length 44cm, OFC 33cm; length 152cm (-1.6SD), OFC 54cm (+0.5SD), weight 64kg (+0.5SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; anxiety; narrow palpebral fissures; no epicanthal folds; no increased nasal height; bulbous tip; low columella; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; strabismus, astigmatism; no ear abnormalities; normal extremities; no genital abnormalities; diabetes - EDEM3 1 3 LOVD
00376973 Fam1PatIV2 PubMed: Polla 2021, Journal: Polla 2021 sister F yes - Romani - - - - CDG birth full term, weight 3050g, length 45cm, OFC 34cm; length 154cm (-1.2SD), OFC 54cm (-0.5SD), weight 67kg (+0.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; anxiety; narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; low columella; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities - EDEM3 1 1 LOVD
00376974 Fam1PatIV4 PubMed: Polla 2021, Journal: Polla 2021 sister F yes - Romani - - - - CDG birth full term, weight 3150g, length 50cm, OFC 34cm; length 148cm (-2.0SD), OFC 52cm (-2.0SD), weight 48.5kg (-0.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; noi behavioral disturbances; narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; no eye abnormalities; ears thickened helix; normal extremities; no genital abnormalities - EDEM3 1 1 LOVD
00376975 Fam2PatIV1 PubMed: Polla 2021, Journal: Polla 2021 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F yes - Romani - - - - CDG birth full term, weight 3095g, length 50cm, OFC 35cm; length 148cm (-2.0SD), OFC 52cm (-2.0SD), weight 43.7kg (-2.0SD); moderate intellectual disability; developmental delay; speech delay; no seizures; hypotonia; anxiety; MRI brain corpus callosum agenesis, no cerebellar vermis hypoplasia, wide cisterna magna; narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; low columella; no smooth philtrum; short philtrum; thin upper lip; retrognatia; ptosis (right eye more affected); astigmatism; ears low set, mild protrusion; normal extremities; no genital abnormalities - EDEM3 1 2 LOVD
00376976 Fam2PatIV3 PubMed: Polla 2021, Journal: Polla 2021 brother M yes - Romani - - - - CDG birth full term, weight 3140g, length 48.5cm, OFC 34.5cm; length 106cm (-2.0SD), OFC 50cm (-0.5SD), weight 16.3kg (-1.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; hyperactivity; narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; low columella; no smooth philtrum; short philtrum; thin upper lip; retrognatia; refractive error; ears low set, mild protrusion; positional club feet; no genital abnormalities; gastro-esophageal reflux - EDEM3 1 1 LOVD
00376977 Fam3PatII1 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents M - United States - - - - - CDG birth full term, weight 3288g, length 53,3cm; length 128.3cm (-1.0SD), OFC 52cm (-0.6SD), weight 23kg (-1.6SD); no intellectual disability; developmental delay; speech delay, mixed receptive-expressive language disorder; no seizures; hypotonia; attention difficulties requiring medical therapy; failure to thrive; no narrow palpebral fissures; epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; nevus flameus; no eye abnormalities; ear thickened helix; normal extremities; hydrocele; normal carboyhdrate deficient transferrin, mild liver function tests elevation, low am cortisol, hypoalbuminemia; thin skin with visible veins, hirsuite legs, delayed bone age, chronic constipation - EDEM3 2 3 LOVD
00376978 Fam3PatII2 PubMed: Polla 2021, Journal: Polla 2021 sister F - United States - - - - - CDG birth full term, weight 3714g; length 119cm (-1.0SD), OFC 50cm (-0.6SD), weight 22kg (-0.6SD); developmental delay; speech delay, mixed receptive-expressive language disorder; febrile seizures; hypotonia; anxiety; MRI brain corpus callosum agenesis; no narrow palpebral fissures; no epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; periorbital fullness, nevus flameus; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; normal carboyhdrate deficient transferrin, mild alanine transaminase elevation, low am cortisol, thyroid-stimulating hormone elevation; thin skin with visible veins, hirsuite legs, chronic constipation - EDEM3 2 1 LOVD
00376979 Fam3PatII3 PubMed: Polla 2021, Journal: Polla 2021 sister F - United States - - - - - CDG birth full term, weight 3940g, length 53,3cm; OFC 50cm (0.0SD), weight 14.8kg (0.0SD); developmental delay; speech delay, mixed receptive-expressive language disorder; no seizures; hypotonia; noi behavioral disturbances; history of central apnea; no narrow palpebral fissures; epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; nevus flameus; no eye abnormalities; ear thickened helix; normal extremities; no genital abnormalities; normal carboyhdrate deficient transferrin, mild aspartate transaminase elevation, low am cortisol, hypercholestrolemia, iron deficiency; thin skin with visible veins, hirsuite legs, chronic constipation, gastro-esophageal reflux, obstructive sleep apnea - EDEM3 2 1 LOVD
00376980 Fam4PatII4 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 1 affected sibs, unaffected heterozygous carrier parents M - United States - - - - - CDG birth full term, weight 3685g; length 79cm (-1.0SD, 18 mo), 18m-OFC 48cm (0.0SD), 18m-weight 9.4kg (-1.9SD); developmental delay; speech delay; no seizures; hypotonia; noi behavioral disturbances; failure to thrive; narrow palpebral fissures; no epicanthal folds; increased nasal height; bulbous tip; hypoplastic alae nasi; smooth philtrum; short philtrum; thin upper lip; retrognatia; deep set eyes, intermittent strabismus, cleft palate; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; atypical hair growth pattern and whorl, early feeding difficulties required nasogastric tube - EDEM3 1 1 LOVD
00376981 Fam5PatII1 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 1 affected sibs, unaffected heterozygous carrier parents F - United States - - - - - CDG birth full term, weight 3323g; length 91cm (-1.7SD, 45 mo), 45m-OFC 47.5cm (-1.3SD), 45m-weight 12.7kg (-1.6SD); developmental delay; speech delay; no seizures; hypotonia; noi behavioral disturbances; concern for central apnea; MRI brain corpus callosum agenesis, periventriciular leucomalacia; failure to thrive; no narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; downslanting fissures, mild ptosis, hypertelorism; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; constipation, ansomia, nonfamilial short stature, poor weight gain - EDEM3 2 1 LOVD
00376982 Fam6PatIV5 PubMed: Polla 2021, Journal: Polla 2021 4-generation family, 1 affected sibs, unaffected heterozygous carrier parents/relatives F yes Afghanistan - - - - - CDG birth-42w, weight 3820g; developmental delay; speech delay; no seizures; no hypotonia; noi behavioral disturbances; no narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; broad nasal bridge, hypertelorism; right-sided strabismus; low set ears; normal extremities; no genital abnormalities; decreased intake at 7 months and diagnosed with gastro-esophageal reflux at 7 months, at 9 months completely stopped intake: nasogastric tube fed, two episodes of tachycardia at rest in hospital (170-180 bpm) with no obvious cause noted in hospital and is occasionally tachycardic at home as well, gastroscopy did not show abnormalities, currently percutaneous endoscopic gastrostomy in situ - EDEM3 1 1 LOVD
00376983 Fam7PatII1 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 1 affected sibs, unaffected heterozygous carrier mother M no Indonesia - - - - - CDG birth-40w+0, weight 3030g, length 52cm; mild intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; delayed responses in social situations; history of central apnea as baby, self limiting; no narrow palpebral fissures; epicanthal folds (Hindu); increased nasal height; bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; droopy eyelids, high palate, full lips, low posterior hair line, mild webbing of the shoulders, narrow temporal skull; no eye abnormalities; no ear abnormalities; born with a Poland sequence: left arm muscles and pectoral muscle underdeveloped, left wrist impaired supination and pronation, mild atrophy of the left thenar muscle and short metacarpal bones of the first digits.; dextrocardia and a mild thoracic scoliosis - EDEM3 2 1 LOVD
00385747 Fam1PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected mother/2 sons F - - Europe - - - - CDG no intrauterine growth retardation; OFC >95th; no long face; high anterior hairline; no short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; no speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); meta-physeal dysplasia; osteoarthritis; muscle cramps; no muscle hypertrophy; mild intellectual disability STT3A STT3A 1 3 Johan den Dunnen
00385748 Fam1PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 son M - - Europe - - - - CDG no intrauterine growth retardation; normal; no long face; no high anterior hairline; short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; no learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); skeletal abnormalities; osteoarthritis; muscle cramps; no muscle hypertrophy; no intellectual disability STT3A STT3A 1 1 Johan den Dunnen
00385749 Fam1PatII.3 PubMed: Wilson 2021, Journal: Wilson 2021 son M - - Europe - - - - CDG no intrauterine growth retardation; OFC 95th; no long face; high anterior hairline; no short palpebral fissures; no wide nasal bridge; long/protruding ears; no thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); short arms; osteoarthritis; muscle cramps; muscle hypertrophy; mild intellectual disability STT3A STT3A 1 1 Johan den Dunnen
00385750 Fam2PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected father/daugther M - - Europe - - - - CDG no intrauterine growth retardation; OFC >95th; no long face; high anterior hairline; short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; no learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); no skeletal abnormalities; osteoarthritis; muscle cramps; no muscle hypertrophy; no intellectual disability STT3A STT3A 1 2 Johan den Dunnen
00385751 Fam2PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 daugther F - - Europe - - - - CDG no intrauterine growth retardation; 75th pc; no long face; high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; no inverted nipples; abnormal fat-distribution; no motor developmental delay; no speech delay; no learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy STT3A STT3A 1 1 Johan den Dunnen
00385752 Fam3PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - CDG no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; abnormal fat-distribution; no motor developmental delay; mild speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; MRI brain persistent cavum septum pellucidum; obesity; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; mild intellectual disability; eczema, hyper-trichosis STT3A STT3A 1 1 Johan den Dunnen
00385753 Fam4PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - CDG intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; no speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); epi-metaphyseal dysplasia; no osteoarthritis; muscle cramps; muscle hypertrophy; moderate intellectual disability; normal pregnancy STT3A STT3A 1 1 Johan den Dunnen
00385754 Fam5PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - CDG no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); skeletal abnormalities; no osteoarthritis; no muscle cramps; intellectual disability STT3A STT3A 1 1 Johan den Dunnen
00385755 Fam6PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - CDG intrauterine growth retardation; OFC 3rd; long face; high anterior hairline; short palpebral fissures; wide nasal bridge; long/protruding ears; thin upper lip vermilion; prognathism; inverted nipples; abnormal fat-distribution; severe motor developmental delay; speech delay, nonverbal; learning problems; increased muscle tone, spastic diplegia; aggressivity; strabismus, retinal dystrophy; MRI brain arachnoid cyst, large posterior fossa; failure to thrive; short stature (-2SD); spondylo-metaphyseal dysplasia brachydactyly; no osteoarthritis; muscle cramps; muscle hypertrophy (biceps/quadriceps); severe intellectual disability; mastoid granulomatosis STT3A STT3A 1 1 Johan den Dunnen
00385756 Fam7PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected M no Turkey - - - - - CDG no intrauterine growth retardation; OFC 25th; no long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (<-2SD); scoliosis, dysplastic L5 vertebra; no osteoarthritis; no muscle cramps; muscle hypertrophy (biceps/quadriceps); no intellectual disability; easy bruising STT3A STT3A 1 1 Johan den Dunnen
00385757 Fam8PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected father/daugther/2 sons M no Australia Anglo-Australian - - - - CDG no intrauterine growth retardation; OFC >98th; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; learning problems; aggressivity; no strabismus; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; mild intellectual disability; delayed puberty dysarthria STT3A STT3A 1 4 Johan den Dunnen
00385758 Fam8PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 son M no Australia Anglo-Australian - - - - CDG no intrauterine growth retardation; OFC >99th; long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; normal fat-distribution; mild motor developmental delay; moderate speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; constipation; no short stature; delayed closure of large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy; moderate intellectual disability; delayed puberty STT3A STT3A 1 1 Johan den Dunnen
00385759 Fam8PatII.2 PubMed: Wilson 2021, Journal: Wilson 2021 son M no Australia Anglo-Australian - - - - CDG no intrauterine growth retardation; OFC >99th; long face; high anterior hairline; no short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; normal fat-distribution; moderate motor developmental delay; speech delay, nonverbal; learning problems, autism; no increased muscle tone, hypotonia; no behavior abnormalities; strabismus; MRI brain perinatal subdural hematoma; no short stature; delayed closure of large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy; severe intellectual disability STT3A STT3A 1 1 Johan den Dunnen
00385760 Fam8PatII.3 PubMed: Wilson 2021, Journal: Wilson 2021 daugther F no Australia Anglo-Australian - - - - CDG no intrauterine growth retardation; OFC >99th; no long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild-moderate motor developmental delay; mild-moderate speech delay; learning problems; no increased muscle tone, hypotonia; no behavior abnormalities; no strabismus; no short stature; large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy STT3A STT3A 1 1 Johan den Dunnen
00385761 Fam9PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected mother/son F no - Europe - - - - CDG no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; –; no increased muscle tone; jaundice; no short stature; no skeletal abnormalities; muscle cramps; no muscle hypertrophy; no intellectual disability; spherocytosis STT3A STT3A 1 2 Johan den Dunnen
00385762 Fam9PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 son M no - Europe - - - - CDG no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; no increased muscle tone; jaundice; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; spherocytosis STT3A STT3A 1 1 Johan den Dunnen
00385763 Fam1Pat1 PubMed: Shrimal 2013 2-generation family, affected sister/brother, unaffected heterozygous carrier parents; brother M yes Pakistan - - - - - CDG no intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, feeding problems, no respiratory difficulties, intellectual disability, cerebellar atrophy, seizures/epilepsy, weak visual tracking, no optic nerve atrophy, hypotonia, gastrointestinal symptoms/G-Tube, no liver involvement, no thrombocytopenia, no genital abnormalities STT3A STT3A 1 2 Johan den Dunnen
00385764 Fam2Pat2 PubMed: Shrimal 2013 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iraq - 04y - - - CDG intrauterine growth retardation; 4y-deceased; microcephaly, failure to thrive, developmental delay, feeding problems, respiratory difficulties, intellectual disability, cerebellar atrophy, seizures/epilepsy, no visual tracking, optic nerve atrophy, hypotonia, gastrointestinal symptoms/G-Tube, liver involvement, thrombocytopenia; genital abnormalities, micropenis, hypoplastic scrotum, undescended testes STT3B STT3B 1 1 Johan den Dunnen
00385766 FamPatIV1 PubMed: Ghosh 2017 4-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - CDG see paper; ..., microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; abnormal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy STT3A STT3A, TUSC3 2 7 Johan den Dunnen
00385767 FamPatIV2 PubMed: Ghosh 2017 PatIV2 M yes Pakistan - - - - - CDG see paper; ..., no microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; normal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; no failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy STT3A STT3A, TUSC3 2 1 Johan den Dunnen
00385768 FamPatIII7 PubMed: Ghosh 2017 PatIII7 F yes Pakistan - - - - - CDG see paper; ..., microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; no self-injurious behavior; sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy STT3A STT3A 1 1 Johan den Dunnen
00385769 FamPatIII8 PubMed: Ghosh 2017 PatIII8 F yes Pakistan - - - - - CDG see paper; ..., no microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; no self-injurious behavior; sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; no feeding problems; no gastrointestinal symptoms/gastrostomy STT3A STT3A 1 1 Johan den Dunnen
00385770 FamPatIII9 PubMed: Ghosh 2017 PatIII9 F yes Pakistan - - - - - CDG see paper; ..., microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; self-injurious behavior; no sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; no feeding problems; no gastrointestinal symptoms/gastrostomy STT3A STT3A 1 1 Johan den Dunnen
00410770 patient PubMed: Wilson 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents (fourth degree cousins) M yes Turkey - - - - - CDG see paper; ..., birth weight 2500gOFC 35cm; 3m-developmental delay, no head control CAMLG CAMLG 1 1 Johan den Dunnen
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 - MOGS 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; - MOGS 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); - MOGS 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 - MOGS 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 - MOGS 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; - MOGS 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 - MOGS 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; - MOGS 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 - MOGS 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 - MOGS 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 - MOGS 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; - MOGS 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); - MOGS 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; - MOGS 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; - MOGS 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; - MOGS 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; - MOGS 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 - MOGS 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; - MOGS 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 - MOGS 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 - MOGS 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 - MOGS 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 MOGS MOGS 3 2 Johan den Dunnen
00457966 Fam1Pat1 PubMed: Wilson 2024 2-generation family, 1 affected, unaffected non carrier parents F - (Belgium) - - - - - CDG see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; no epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain bilateral hypoplasia cranial nerves V, VII and VIII; bilateral neurotrophic keratopathy; failure to thrive; gastrostomy tube feeding; hepatosplenomegaly in infancy; obstipation; hypertrichosis arms and legs; severe apnea episodes; contractures elbows and knees - DHRSX 1 1 Johan den Dunnen
00457967 Fam2Pat2 PubMed: Wilson 2024 2-generation family, 1 affected, unaffected parents F - - - 11m - - - CDG see paper; ..., 11m-deceased; facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; bilateral sensorineural hearing loss, auditory evoked potentials inconclusive; MRI brain small corpus callosum; no ophthalmological anomalies; failure to thrive; gastrostomy tube feeding; cholestasis, hepatomegaly; ichthyosis; persistent ductus arteriosus - DHRSX 1 1 Johan den Dunnen
00457968 Fam3Pat3 PubMed: Wilson 2024 2-generation family, 2 affected brothers, unaffected non carrier parents M - Canada - - - - - CDG see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain mild thinning corpus callosum, bilateral absence of the cochlear nerves, superior and inferior vestibular nerves bilaterally absent/hypoplastic; bilateral neurotrophic keratopathy; failure to thrive; gastrostomy tube feeding; no hepato(spleno)megaly; gastroesophageal reflux disease; eczema; stridor; severe obstructive sleep apnea requiring BiPAP; scoliosis; knee contractures - DHRSX 2 2 Johan den Dunnen
00457969 Fam3Pat4 PubMed: Wilson 2024 brother M - Canada - - - - - CDG see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain bilateral absence of the cochlear nerves, superior and inferior vestibular nerves bilaterally absent/hypoplastic; corneal erosion right eye; failure to thrive; gastrostomy tube feeding; no hepato(spleno)megaly; gastroesophageal reflux disease; no dermatological findings; stridor; respiratory insufficiency requiring BiPAP; scoliosis knee contractures - DHRSX 2 1 Johan den Dunnen
00464290 patient PubMed: Reunert 2019, Journal: Reunert 2019 2-generation family, 1 affected, unaffected non carrier parents M no Germany - - - - - CDG see paper; ..., - ARCN1 1 1 Johan den Dunnen
00465272 Fam1PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Amish 5y - - - CDG see paper; ..., 5y-deceasaed; birth OFC 34.5 cm (-1.02); OFC 4m-38.1 cm (-3.95); cranial dysmorphism; severe developmental delay; central hypotonia, limb hypertonia; neonatal onset tonic-clonic seizures; MRI brain periventricular heterotopia, mild delay in myelination; enlarged kidneys with cystic foci, cryptorchidism; hepatomegaly with periportal echogenicity/fibrosis; patent foramen ovale, patent ductus arteriosus; overlapping fingers and toes, scoliosis, wide sandal gap; horizontal nystagmus; central apnea, feeding difficulties, hearing impairment, respiratory failure - UGGT1 2 1 Johan den Dunnen
00465273 Fam2PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Pakistan - - - - - CDG see paper; ..., birth OFC 33.5 cm (-1.14); OFC 9y10m-52.8 cm (-1.02); no cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability; normal muscle tone; severe, medically refractory seizures; autism, challenging behavior; MRI brain normal; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; no ocular anomalies - UGGT1 1 1 Johan den Dunnen
00465274 Fam3PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Pakistan - 7m - - - CDG see paper; ..., 7m-deceasaed; birth OFC 32.5 cm (-0.66); cranial dysmorphism; severe developmental delay; limb contractures; no seizures; MRI brain periventricular heterotopia, hypoplastic cerebellum and optic nerves; cystic renal dysplasia, cryptorchidism, short penis; intra- and extrahepatic bile duct dilation; hypoplastic aortic arch, patent ductus arteriosus, atrial septal defect; contractures, upper thoracic hemivertebra; bilateral coloboma; cleft lip and palate, sensorineural hearing loss, failure to thrive, hernias, respiratory failure, aortic and inferior vena cana thrombi - UGGT1 1 2 Johan den Dunnen
00465275 Fam3PatII2 PubMed: Dardas 2025, Journal: Dardas 2025 sister F yes Pakistan - <0d - - - CDG see paper; ..., deceasaed (fetus); MRI brain cystic post-fossa (antenatal scan); double outlet right ventricle, transposition great arteries, ventricular septal defect, hypoplastic pulmonary valve with pulmonary stenosis; cleft lip and palate, cystic abdominal mass, lung hypoplasia - UGGT1 1 1 Johan den Dunnen
00465276 Fam4PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Europe - - - - CDG see paper; ..., birth OFC 34 cm (−0.47); OFC 16y4m-54.6 cm (-1.25); cranial dysmorphism; seversevere developmental delay; nonverbal; severe Intellectual disability; hypotonia (infancy), normal; febrile onset then afebrile, partial complex, and GTC; autism, severe self-injury; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; hypothyroidism - UGGT1 2 1 Johan den Dunnen
00465277 Fam5PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - CDG see paper; ..., cranial dysmorphism; developmental delay; lower limb hypertonia; recurrent febrile seizures; hyperactive; MRI brain normal - UGGT1 1 1 Johan den Dunnen
00465278 Fam6PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - CDG see paper; ..., microcephaly; cranial dysmorphism; severe developmental delay; severe intellectual disability; hypotonia (infancy), hypertonia; focal seizures; hyperactive; MRI brain normal; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; no ocular anomalies - UGGT1 1 2 Johan den Dunnen
00465279 Fam6PatII2 PubMed: Dardas 2025, Journal: Dardas 2025 brother M - Saudi Arabia - - - - - CDG see paper; ..., OFC 51.5 cm (-2.63); cranial dysmorphism; severe developmental delay; severe intellectual disability; febrile seizures; hyperactive, stereotypies; MRI brain normal; cryptorchidism; no hepatobiliary anomalies - UGGT1 1 1 Johan den Dunnen
00465280 Fam7PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - CDG see paper; ..., birth OFC 37 cm (1.41); OFC 51 cm (-2.18); cranial dysmorphism; severe developmental delay; severe Intellectual disability; normal muscle tone; absence seizures, myoclonic seizures, generalized tonic clonic seizures; stereotypies, anxiety; MRI brain bilateral high T2/low T1 signal in the putamina; no genitourinary anomalies; no hepatobiliary anomalies; no hepatobiliary anomalies; no skeletal anomalies; strabismus - UGGT1 1 1 Johan den Dunnen
00465281 Fam8PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Turkey - 8y - - - CDG see paper; ..., 8y-deceasaed; birth OFC 33.7 cm (-1.18); severe developmental delay; severe Intellectual disability; febrile clonic seizures; MRI brain hypoplastic corpus callosum; bilateral dilated pyelum and hydronephrosis, mega-ureter; bicuspid aortic valve, patent ductus arteriosus; cyclic neutropenia - UGGT1 1 2 Johan den Dunnen
00465282 Fam8PatII2 PubMed: Dardas 2025, Journal: Dardas 2025 sister F yes Turkey - 7y - - - CDG see paper; ..., 7y-deceasaed; birth OFC 32.5 cm (-0.95); OFC 3y-45.5 cm (-4.01); cranial dysmorphism; seversevere developmental delay; nonverbal; severe Intellectual disability; central hypotonia; febrile clonic seizures; stereotypies; MRI brain L mesial temporal sclerosis, asymmetric cerebral hemisphere atrophy; no genitourinary anomalies; no hepatobiliary anomalies; small ventricular septal defect; no skeletal anomalies; cortical blindness; cyclic neutropenia - UGGT1 1 1 Johan den Dunnen
00465283 Fam9PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, affected brother/2 sisters, unaffected heterozygous carrier parents F yes Egypt - - - - - CDG see paper; ..., birth OFC 33 cm (-1.20); OFC 46.5 cm (-5.85); cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability (IQ25); hypertonia; tonic seizures, generalized tonic clonic seizures; autism, hyperactive; MRI brain hypoplastic corpus callosum; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism - UGGT1 1 3 Johan den Dunnen
00465284 Fam9PatII2 PubMed: Dardas 2025, Journal: Dardas 2025 sister F yes Egypt - - - - - CDG see paper; ..., birth OFC 33.5 cm (-0.90); OFC 48.5 cm (-3.43); cranial dysmorphism; severe developmental delay; severe intellectual disability (IQ35); hypertonia; no seizures; autism, hyperactive; MRI brain bright hippocampi; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism - UGGT1 1 1 Johan den Dunnen
00465285 Fam9PatII3 PubMed: Dardas 2025, Journal: Dardas 2025 sister M yes Egypt - - - - - CDG see paper; ..., birth OFC 34 cm (-0.95); OFC 49 cm (-2.77); cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability (IQ30); hypertonia; tonic seizures; autism, hyperactive; MRI brain abnormal T2 signal in anterior temporal lobes; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism - UGGT1 1 1 Johan den Dunnen
00465286 Fam10PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Egypt - - - - - CDG see paper; ..., birth OFC 34 cm (-0.47); OFC 42.5 cm (-3.97); cranial dysmorphism; moderate developmental delay; hypertonia; no seizures; autism, anxiety; MRI brain thin corpus callosum; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; nystagmus - UGGT1 1 1 Johan den Dunnen
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