All individuals with variants in gene CANT1

21 entries on 1 page. Showing entries 1 - 21.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00204626 - - - - - - - - - - - DBQD2 with atypical hand anomalies 1 1 celine huber
00204627 - - - - - - - - - - - DBQD1 - 2 1 celine huber
00204628 - - - - - - - - - - - DBQD1 - 2 1 celine huber
00204629 - - - - - - - - - - - DBQD1 - 1 1 celine huber
00204630 - - - - - - - - - - - DBQD1 - 1 1 celine huber
00204631 - - - - - - - - - - - DBQD1 - 1 1 celine huber
00204632 - - - - - - - - - - - DBQD1 - 1 1 celine huber
00204633 - - - - - - - - - - - DBQD1 - 1 1 celine huber
00291866 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 108 Mohammed Faruq
00331340 15DG0001 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Skeletal dysplasia, Macrocephaly at birth, Short stature, Wide anterior fontanel 1 1 LOVD
00331341 15DG2387 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Brachydactyly, Acromelia, Bilateral talipes equinovarus, Micrognathia, Narrow palpebral fi Yes 1 1 LOVD
00331342 16DG0734 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Skeletal dysplasia, Low-set ears, Abnormality of the pinna, Depressed nasal bridge, ProptNo 1 1 LOVD
00331343 09DG00066, 09DG00019 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Short long bones, IUGR, Polyhydramnios, Narrow chest 1 2 LOVD
00331344 13DG1354 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Severe short stature, Multiple joint dislocation 1 1 LOVD
00331345 14DG0051 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Limb undergrowth, Narrow chest, Neonatal respiratory distress, Round face, MicrognathiaNo 1 1 LOVD
00427966 211748 - prenatal trio-exom after ultrasound abnormalities ? no Germany - - - - - DBQD1 Abnormality of prenatal development or birth, Short long bone, Abnormal fetal skeletal morphology, Skeletal dysplasia, Aplasia/Hypoplasia involving bones of the thorax 2 1 Andreas Laner
00465802 Fam2Pat2A/2B PubMed: Byrne 2020 2-generation family, 2 affected brothers (deceased), unaffected heterozygous carrier parents M yes Australia Turkey - - - - skeletal dysplasia see paper; ..., Pat2A short long bones, increased nuchal thickness, hydropic, relative macrocephaly, prominent eyes, depressed nasal bridge, small nose, midface hypoplasia, small mouth, short neck, narrowed thorax, prominent abdomen, short extremities, over-riding and flexion contracture fingers, postaxial polydactyly right hand, bilateral talipes equinovarus, shortened long bones with mild bowing and widened metaphyses, medial metaphyseal beaking proximal femora, steep acetabular angle, multiple joint dislocations, 6m-deceased respiratory insufficiency 1 1 Johan den Dunnen
00465846 Pat2 PubMed: Ranza 2017 patient, no family history - yes Turkey - 5h - - - ? see paper; ..., 5h-deceased; intrauterine growth retadation; short stature; advanced bone age; joint dislocations hips, elbows, knees; hands short hands, supernumerary phalanx; Swedish key appearance, feet malposition; atrial septum defect, small thorax, lung hypoplasia; ; flat face 1 1 Johan den Dunnen
00465847 Pat3 PubMed: Ranza 2017 fetus, no family history - yes Algeria - <0d - - - ? see paper; ..., terminated pregnancy; intrauterine growth retadation; short stature; normal bone age; joint dislocations hips, elbows; hands club hands, supernumerary phalanx; Swedish key appearance, club feet; ; ; facial features 1 1 Johan den Dunnen
00465848 Pat4 PubMed: Ranza 2017 patient, family history - yes Turkey - 3m - - - ? see paper; ..., 3m-deceased; intrauterine growth retadation; short stature; advanced bone age; joint dislocations hips, left knee; hands brachydactyly, stubby conical fingers; Swedish key appearance, pelvic dysplasia, hypoplastic vertebrae, short long bones, right knee contracted; patent ductus arteriosus narrow, small thorax; ; very short neck, depressed nasal bridge, short nose, micrognathia, high arched palate 1 1 Johan den Dunnen
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