All individuals with variants in gene SON

59 entries on 1 page. Showing entries 1 - 59.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00019864 - PubMed: Gilissen 2014, PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F ? Netherlands - - - - - ID see paper; ..., severe intellectual disability (HP:0010864) 1 1 Marianne Vos (LOVD-team)
00081336 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., moderate intellectual disability (HP:0002342) 1 1 Johan den Dunnen
00081337 Pat91;Pat03 PubMed: Zhu 2015, Journal: Zhu 2015, PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United States - - - - - ID see paper; ..., seizure disorders, minor dysmorphisms, macrocephaly, brain white matter abnormalities, intestinal atresia, ventriculoseptal defect; moderate/severe intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 1 Johan den Dunnen
00081338 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., moderate intellectual disability (HP:0002342) 1 1 Johan den Dunnen
00081339 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., mild intellectual disability (HP:0001256) 1 1 Johan den Dunnen
00081340 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., mild intellectual disability (HP:0001256) 2 1 Johan den Dunnen
00081341 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., mild intellectual disability (HP:0001256) 1 1 Johan den Dunnen
00081342 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., mild intellectual disability (HP:0001256) 1 1 Johan den Dunnen
00081343 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., moderate/severe intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00081344 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., mild intellectual disability (HP:0001256) 1 1 Johan den Dunnen
00081345 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00081346 - PubMed: Kim 2016, Journal: Kim 2016 2-generastion family, 1 affected, conceived using an ovum donor, non-carrier father F - - - - - - - ID see paper; ..., moderate intellectual disability (HP:0002342) 1 1 Johan den Dunnen
00081347 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., moderate intellectual disability (HP:0002342) 1 1 Johan den Dunnen
00081348 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00081349 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00081350 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., moderate intellectual disability (HP:0002342) 1 1 Johan den Dunnen
00081351 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., moderate intellectual disability (HP:0002342) 1 1 Johan den Dunnen
00081352 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., moderate/severe intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00081353 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., moderate intellectual disability (HP:0002342) 1 1 Johan den Dunnen
00081354 - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00289307 - - - M - - - - - - - ? Cognitive impairment (HP:0100543); Intellectual disability (HP:0001249); Encephalitis (HP:0002383); Microcephaly (HP:0000252); Short stature (HP:0004322); Seizures (HP:0001250); Strabismus (HP:0000486) 1 1 IMGAG
00301052 Pat1 PubMed: Braddock 1994, PubMed: Braddock 2016 - F - United States - - - - - ? developmental delay/intellectual disability; growth deficiency; Pierre Robin sequence; thrombocytopenia; megakaryocytes in bone marrow; enamel hypoplasia; large, posteriorly rotated ears; curly hair; no renal malformation; congenital heart disease; camptodactyly/clinodactyly; agenesis corpus callosum 1 1 Johan den Dunnen
00301053 Pat2 PubMed: Braddock 1994, PubMed: Braddock 2016 - F - United States - - - - - ? developmental delay/intellectual disability; growth deficiency; Pierre Robin sequence; thrombocytopenia; megakaryocytes in bone marrow; enamel hypoplasia; large, posteriorly rotated ears; curly hair; renal malformation; no congenital heart disease; camptodactyly/clinodactyly; agenesis corpus callosum; 4y6m-sparse hair, broad nasal root, U-shaped vermilion upper lip, thickness lower lip, lack of facial expression 1 1 Johan den Dunnen
00301054 Pat PubMed: Takenouchi 2016 - M - Japan - - - - - ? developmental delay/intellectual disability; growth deficiency; no Pierre Robin sequence; ;; no enamel hypoplasia; large, posteriorly rotated ears; curly hair; no renal malformation; congenital heart disease; no camptodactyly/no clinodactyly 1 1 Johan den Dunnen
00301055 Subject 1 PubMed: Tokita 2016 - F - - - - - - - ? intrauterine growth restriction, placenta previa; birth 32w, C-section for fetal distress; respiratory failure, feeding difficulties; height 2nd percentile, weight 3rd percentile, OFC 2nd percentile; developmental delay; regression; autism spectrum disorder; seizures; hypotonia; frontal bossing, bitemporal narrowing, epicanthal folds, thin lip, smooth philtrum; brain imaging global volume loss, thin corpus callosum, mild periventricular gliosis; congenital atrial septal defect (resolved); exotropia, nystagmus; hearing pressure-equalizing tubes; delayed gastric emptying, feeding difficulties; joint laxity; deep-vein thrombosis 1 1 Johan den Dunnen
00301056 Subject 2 PubMed: Tokita 2016 - M - - - - - - - ? maternal hypertension; birth full term, C-section for fetal distress; feeding difficulties; height 40th percentile, weight 1st percentile, OFC 50th percentile; developmental delay; regression; autism spectrum disorder; seizures; downslanting palpebral fissures, bifid uvula, submucous cleft palate, short philtrum; brain imaging progressive ventricular and subarachnoid space dilatation, arachnoid cyst; progressive vision loss, myopia, exotropia; auditory hallucination; pancreatic lipase insufficiency, dysphagia; scoliosis, arachnodactyly, dolichostenomelia 1 1 Johan den Dunnen
00301057 Subject 3 PubMed: Tokita 2016 - F - - - - - - - ? intrauterine growth restriction; birth full term, wrapped cord, variable heart rate, failure to progress; feeding difficulties, hypoglycemia; height 25th percentile, weight −2.29 (Z score), OFC −4 (Z score); developmental delay; no regression; autism spectrum disorder; no seizures, abnormal EEG; hypotonia, spasticity; downslanting palpebral fissures, downturned mouth, short philtrum, thin lip, thin limbs; brain imaging unremarkable; hearing pressure-equalizing tubes; failure to thrive, chronic diarrhea, feeding difficulties; joint laxity, cervical rib; IgG and IgA deficiency, recurrent infection 1 1 Johan den Dunnen
00301058 Subject 4 PubMed: Tokita 2016 - F - - - - - - - ? intrauterine growth restriction, maternal borderline diabetes, factor V deficiency; birth 33w, C-section for fetal distress; respiratory failure, feeding difficulties; height 75th percentile, weight 85th percentile, OFC 60th percentile; developmental delay; regression; staring spells; hypotonia; submucous and laryngeal cleft, frontal bossing, bitemporal narrowing, epicanthal folds, thin lip, smooth philtrum; brain imaging periventricular leukomalacia with mild dilation of the lateral ventricle; congenital abnormal placement of carotid arteries neck; esotropia, CVI, blue sclera, segmental optic nerve hypoplasia; hearing pressure-equalizing tubes; failure to thrive, G-tube feeding, diarrhea, reflux, gastric dysmotility; joint laxity, cervical ribs, mild syndactyly; IgA deficiency, recurrent infection 1 1 Johan den Dunnen
00301059 Subject 5 PubMed: Tokita 2016 - F - - - - - - - ? maternal hypertension; birth 35w, C-section for maternal hypertension; feeding difficulties, respiratory issues; height 3rd percentile, weight 12th percentile, OFC 72nd percentile; developmental delay; no regression; no hypotonia; downslanting palpebral fissures, laterally flared eyebrows, short philtrum; brain imaging prominent extra-axial spaces, dysgenesis of corpus callosum; congenital single kidney; history of bilateral eye surgery; feeding difficulties; exaggerated lumbar lordosis; borderline IgG levels 1 1 Johan den Dunnen
00301060 Subject 6 PubMed: Tokita 2016 - F - - - - - - - ? intrauterine growth restriction, oligohydramnios, pre-eclampsia, fetal anomalies; birth 36w, vaginal delivery; feeding difficulties, respiratory issues; height −3 (Z score), weight 2nd percentile, OFC 12th percentile; developmental delay; no regression; no autism spectrum disorder; no seizures, abnormal EEG; hypotonia; downslanting palpebral fissures, long face, full cheeks, short philtrum, thin lips; brain imaging evidence of prior MCA stroke, prominent ventricles; congenital dysplastic kidney, congenital lobar emphysema; strabismus; inconclusive hearing assessment; dysphagia, G-tube feeding; no musculo-skeletal features; prior middle cerebral artery infarct, multiple transient ischemic attacks 1 1 Johan den Dunnen
00301061 Subject 7 PubMed: Tokita 2016 - F - - - - - - - ? intrauterine growth restriction, fetal anomalies; birth 36w, C-section for fetal distress; respiratory distress, feeding difficulties; height 1st percentile, weight −3 (Z score), OFC −2.5 (Z score); developmental delay; no regression; no autism spectrum disorder; no seizures; hypotonia; downslanting palpebral fissures, epicanthal folds, smooth philtrum, thin lips; congenital ventricular septal defect, patent ductus arteriosus, agenesis of the left lung, gallbladder agenesis; no concerns; normal hearing; failure to thrive, G-tube recommended; hemivertebrae, rib fusion, thumb agenesis, syndactyly 2 1 Johan den Dunnen
00301072 patient PubMed: Izumi 2012 - F - United States - - - - - ? see paper; ...,no thrombocytopenia; no agenesis corpus callosum; developmental delay; no growth deficiency; no microcephaly; micrognathia, Pierre Robin Sequence; no enamel hypoplasia; no ear abnormality; congenital heart disease 1 1 Johan den Dunnen
00301080 patient PubMed: Quintana Castanedo 2020 2-generation family, 1 affected, unaffected parents F - Spain - - - - - ID see paper; ..., moderate intellectual disability, multiple congenital anomalies, skin and nails abnormalities 1 1 Johan den Dunnen
00301081 patient PubMed: Yang 2019 2-generation family, 1 affected, unaffected parents F - China - - - - - ID see paper; ..., born small for gestational age, poor academic performance, delayed language development, motor retardation 1 1 Johan den Dunnen
00303077 Pat119 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset infantile 1 1 Johan den Dunnen
00308041 Pat20 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - yes Germany - - - - - ? severe global developmental delay, cardiac abnormalities, muscular hypotonia, facial dysmorphism 1 1 Johan den Dunnen
00308042 Pat21 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - ? severe global developmental delay, cardiac abnormalities, epilepsy, renal cyst 1 1 Johan den Dunnen
00320135 - - - F - - - - - - - ? Microcephaly (HP:0000252); Strabismus (HP:0000486); Delayed speech and language development (HP:0000750); Nail dysplasia (HP:0002164); Short stature (HP:0004322); Sleep-wake cycle disturbance (HP:0006979) 1 1 IMGAG
00320174 - - - F - - - - - - - ? Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Partial agenesis of the corpus callosum (HP:0001338); Persistent left superior vena cava (HP:0005301) 1 1 IMGAG
00373718 iw107 - - F no China Chinese - - - - ZTTKS HP:0004322; HP:0004325; HP:0001249 1 1 Wenjuan Qiu
00377114 Pat1 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377116 Pat2 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377117 Pat3 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377118 Pat4 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377119 Pat5 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377120 Pat6 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377121 Pat7 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377122 Pat8 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377123 Pat9 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377124 Pat10 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377125 Pat11 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377126 Pat12 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377127 Pat13 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377128 Pat14 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377129 Pat15 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377130 Pat16 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377131 Pat17 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00377132 Pat18 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - ZTTKS see paper; ... (very detailed phenotype descriptions) 1 1 Alexander Dingemans
00457742 - - - M - - (not applicable) white - - - - ? HP:0001508, HP:0001263, HP:0001627 1 1 Marketa Wayhelova
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.