All individuals with variants in gene KYNU

11 entries on 1 page. Showing entries 1 - 11.
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00275557 FamC PubMed: Shi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes United Kingdom (Great Britain) Lebanon - - - - ? vertebral segmentation defects; patent ductus arteriosus; renal hypoplasia; limb defects talipes, syndactyly, rhizomelia; low-set ears; anterior anus 1 1 Johan den Dunnen
00275558 FamD PubMed: Shi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - ? vertebral segmentation defects; hypoplastic left heart; solitary kidney, chronic kidney disease; shortened long bones; normal hearing/ears, no hearing defect; short stature, speech delay 2 1 Johan den Dunnen
00303205 family PubMed: Christensen 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Denmark - - - - - hydroxykynureninuria? massive urinary excretion of xanthurenic acid, 3-hydroxykynurenine and kynurenine 1 2 Johan den Dunnen
00303206 Pat1 PubMed: Ehmke 2020 - M - - Caribbean - - - - CATMANS short stature (HP:0004322) -2.3 SD; vertebral anomalies (HP:0003468), butterfly vertebrae T10–11, scoliosis; no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); no other limb defects (-HP:0040068); no Pierre Robin sequence with cleft palate (-HP:0000201); microretrognathia (HP:0000308); no renal malformation (-HP:0012210); congenital heart defect (HP:0001627), hypoplastic left heart; mild developmental delay (HP 0001263); no muscular hypotonia (-HP:0001252); no failure to thrive (-HP:0001531); no microcephaly (-HP:0000252); facial dysmorphism (HP:0001999); no joint hypermobility (-HP:0001382); hepatomegaly 2 1 Johan den Dunnen
00303207 Pat2 PubMed: Ehmke 2020 - F yes Turkey - - - - - CATMANS short stature (HP:0004322) -4.6 SD; vertebral anomalies (HP:0003468), butterfly vertebra T8; no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); other limb defects (HP:0040068), long thumbs; no Pierre Robin sequence with cleft palate (-HP:0000201); no microretrognathia (-HP:0000308); no renal malformation (-HP:0012210); congenital heart defect (HP:0001627), Tetralogy of Fallot, anomalous origin left coronary artery from pulmonary artery; developmental delay (HP 0001263); severe muscular hypotonia (HP:0001252); failure to thrive (HP:0001531), PEG feeding; microcephaly (HP:0000252) -6.4 SD; facial dysmorphism (HP:0001999); no joint hypermobility (-HP:0001382); sensorineural hearing loss (HP:0000407); malformation of cochlea and semicircular canals (HP:0008554, HP:0011380); bilateral single transverse palmar crease 1 1 Johan den Dunnen
00303208 Pat3 PubMed: Ehmke 2020 - F yes Turkey - - - - - CATMANS short stature (HP:0004322) -2.2 SD; no vertebral anomalies (-HP:0003468); no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); other limb defects (HP:0040068), short 3rd fingers and short 2nd metacarpals due to accessory ossicles, clinodactyly of 5th fingers, 2,3-toe syndactyly; no Pierre Robin sequence with cleft palate (-HP:0000201); microretrognathia (HP:0000308); renal malformation (HP:0012210), unilateral renal agenesis; congenital heart defect (HP:0001627), secundum atrial septal defect, subaortic ventricular septal defect; mild developmental delay (HP 0001263); no muscular hypotonia (-HP:0001252); no failure to thrive (-HP:0001531); microcephaly (HP:0000252) -2.3 SD; facial dysmorphism (HP:0001999); joint hypermobility (HP:0001382) 1 1 Johan den Dunnen
00359452 - - - - - (Brazil) - - - - - CATMANS - 1 1 Cynthia Silveira
00436117 F5;FamPat5 PubMed: Szot 2021, PubMed: Guo 2023 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - ? see paper; ..., fetal ultrasound unremarkable, birth at term, weight 2,760g, length 50cm at 6 weeks (-2.1 SD); weight 22kg (8th centile), length 130.8cm (46th centile); no spine anomaly; no metaphyseal anomaly; no epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly; no hydronephrosis; global developmental delay, autism 1 1 Johan den Dunnen
00436122 Fam7PatII2 PubMed: Szot 2021 2-generation family, affected brother/sister, unaffected heterozygous parents F - - - - - - - ? see paper; ..., aortic hypoplasia, atrial septal defect, ventricular septal defect, mitral valve stenosis, dilatation pulmonary trunk and ductus arteriosus; no renal anomalies; shortening all extremities Mild facial dysmorphism, hypertelorism, prominent folds at the inner sides of the eyes, ventriculomegaly with unaffected cerebellum 2 2 Johan den Dunnen
00436123 Fam6 PubMed: Szot 2021 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - ? see paper; ..., no cardiac anomalies; no renal anomalies; cutaneous syndactyly of upper and lower extremities (digits 3-4 (right hand), digits 3-5 (left hand; 2/3 toe syndactyly), short limbs; growth restriction, developmental delay, cleft palate, cutis marmorata, mild facial dysmorphism (short midface, upturned nose, thin lips, brachycephaly, high anterior hairline, short palpebral fissures, thick nasal alae), ocular crystals, flat iris nodules, uniform hypopigmented patches iris bilaterally 2 1 Johan den Dunnen
00436124 Fam4 PubMed: Szot 2021 2-generation family, 1 affected, unaffected heterozygous parents/relatives, unaffected carrier parents M - - - - - - - ? see paper; ..., nine ribs, bilaterally, multiple proximal fusions, lower 3 pairs of ribs; multiple segmentation errors of the vertebral, thoracic and lumbar spine; hypoplastic sacrum; Tetralogy of Fallot (absent pulmonary valve), abnormal fusion of right posterior semicircular canal; absent left kidney; upper and lower limbs appear short; prominent pterygia at shoulders, elbows, and wrists; clenched hands with overlapping fingers, mild brachymelia; craniofacial dysmorphism (squared facial profile, short neck with webbing; low anterior hairline, prominent brow; nose broad and flat with anteverted nares; posteriorly angled ears; microretrognathia; ankloglossia), excess wrinkled skin; hypoplastic right lung; small stomach; polyhydramnios (tracheoesophageal fistula) 1 1 Johan den Dunnen
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