All individuals with variants in gene UGGT1

15 entries on 1 page. Showing entries 1 - 15.
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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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1 1 Johan den Dunnen
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