All individuals with variants in gene EDEM3

12 entries on 1 page. Showing entries 1 - 12.
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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 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 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 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 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 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 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 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 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 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 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 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 2 1 LOVD
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