All individuals with variants in gene DDB1

10 entries on 1 page. Showing entries 1 - 10.
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     
00207965 - - - - - Brazil - - - - - ? - 3 1 Thayne Kowalski
00359620 Pat1 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - white, Europe-North - - - - NDD birth 38w, weight 2040g (<3rd centile, length 47cm (10 centile); neonatal jaundice, nasogastric tube feeding (1w); weight 80.3kg 16y9m (95th percentile), 88kg 18y2m (97th centile), length 150.4cm 18y2m (2nd percentile); anterior anus with rectovaginal fistula; moderate hypotonia; moderate intellectual disability; normal vision; normal hearing; no seizures; MRI-brain mild ventriculomegaly; thick, light blonde eyebrows; deep-set eyes, upslanting palpebral fissures, epicanthic folds; early childhood short nose; very round cheeks; thin upper vermilion border, wide mouth; large ears with large and long ear lobes; short neck with excess skin at base neck (posterior thickening); fair skin; joint laxity; very small hands and feet, fourth metacarpal shortening bilaterally, brachydactyly; ADHD and anxiety requiring medication, hypothyroidism, recurrent otitis media 1 1 Johan den Dunnen
00359621 Pat2 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Jewish-Ashkenazi - - - - NDD birth 40w, weight 2500g (3-10th centile), length 49cm (42nd centile); neonatal hypoglycemia, tachypnea (birth), admitted to NICU for 1m; weight 52.7kg 9y2m (>97th centile), length 137cm 9y2m (75th centile), OFC 51cm 9y 2m (50th centile); accessory band across left ventricle heart, horseshoe kidney, anterior ectopic anus; moderate hypotonia; moderate intellectual disability; normal vision; bilateral hearing loss, wears aids; no seizures; MRI-brain thinning posterior body corpus callosum, non-specific abnormal signal genu corpus callosum, ventriculomegaly; prominent, straight and dark eyebrows with synophrys; long palpebral fissures with lateral extension, epicanthus inversus, long dark eyelashes, striking blue irides; short nose with small nares, hypoplastic alae nasi, narrow base, high nasal bridge; mid-face hypoplasia; normal mouth; low-set large ears with long fleshy lobes; short neck; hirsutism on back, fibro-fatty deposition lateral dorsal aspect torso with thickened overlying skin ; significant cutaneous syndactyly of 2-3 toes, brachydactyly, tapering fingers; nasal voice with some articulation difficulties, marked truncal obesity 1 1 Johan den Dunnen
00359622 Pat3 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - NDD birth 42w, weight 4040g (70th centile), length 54cm (60th centile), OFC 37cm (74th centile); weight 52.8kg 10y8m (>97th centile), length 138cm 10y8m (95th centile), OFC 53cm 10y 8m (79th centile); mild hypotonia; moderate developmental delay; normal vision; normal hearing; no seizures; synophrys; small eyes; normal nose; normal midface; normal mouth; large earlobes; normal neck; normal skin; short toes; frequent otitis media 1 1 Johan den Dunnen
00359623 Pat4 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Australia white - - - - NDD birth 42w, weight 3480g (70th centile), length 52cm (93rd centile), OFC 34.5 (60th centile); weight 12.35kg 3y (4th centile), length 90cm 3y (14th centile), OFC 47cm 3y (5th centile); no hypotonia; mild intellectual disability (IQ69); hypermetropia, strabismus; conductive hearing loss requiring tympanostomy tubes; no seizures; MRI-brain mild delayed myelination; straight, dark, eyebrows with medial flare, lateral extension; lateral extension to palpebral fissures; short nose; midface hypoplasia; thin upper vermilion border; large ears with fleshy lobes; short neck; soft skin; short toes; 2y9m-obstructive sleep apnoea requiring adeno-tonsillectomy 1 1 Johan den Dunnen
00359624 Pat5 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Armenia - - - - - NDD birth 36w, weight 2900g (25-50th centile), length 47cm (50th centile); neonatal feeding difficulties, jaundice; weight 45.5kg 13y9m (25-50th centile), BMI 23,55 (+1.85 SD), length 139cm 13y9m (<1st centile), OFC 52.4cm 13y9m (10-25th centile); horseshoe kidney with left vesico-ureteric reflux, pelvicalyceal dilatation kidney, megaureter; moderate hypotonia; mild-moderate intellectual disability; esotropia, hypermetropia, nystagmus; normal hearing; no seizures; dark, straight, heavy eyebrows; normal eyes; normal nose; round face,; mild midface hypoplasia, full cheeks; protruding upper lip, thin vermillion border, maxillary overbite, asymmetric occlusion of teeth; large fleshy ears and earlobes; short neck; hirsutism; short toes 1 1 Johan den Dunnen
00359625 Pat6 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - white - - - - NDD birth 38w, weight 2960g (23rd centile); neonatal hypotonia, temperature instability, hypoglycemia, torticollis; weight 13.05kg 22m (82nd centile), length 87.6cm 18m (98th centile), OFC 48.2cm 18m (73rd centile); moderate hypotonia; mild intellectual disability; strabismus; normal hearing; episodes of eye rolling and head movement, no confirmed seizures; MRI-brain bilateral linear T2, flair hyperintensities central segmental tract pons; medial flare eyebrows; telecanthus, lateral extension to palpebral fissures, epicanthal folds with long eyelashes; small narrownose with narrow alae nasi; normal midface; ankyloglossia (underwent frenotomy), retrognathia, narrow tented lip; low set and fleshy ears; torticollis ; integumentary papules on chin 1 1 Johan den Dunnen
00359626 Pat7 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - white, Slavic - - - - NDD birth 41w, weight 3180g (12th centile), length 51cm (72nd centile), OC 35cm (31st centile); ; weight 12.9kg 2y5m (36th centile), length 86.2cm 2y5m (11th centile), OFC 49.7cm 2y5m (25th centile); mild left hydronephrosis; moderate hypotonia; moderate developmental delay; convergent strabismus, nystagmus; normal hearing; no seizures; MRI-brain mild dilation lateral ventricles, thin corpus callosum; normal eyebrows; deeply set eyes, inner canthal folds, hypotelorism, convergent strabismus, nystagmus; small and upturned nose, hypoplastic alae nasi; full cheeks; normal mouth; large ears with simple morphology; normal neck; mild cutis laxa; 2-3 toe partial syndactyly; gastro-esophageal reflux 1 1 Johan den Dunnen
00359627 Pat8 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Mexico - - - - - NDD neonatal hypotonia; metopic craniosynostosis; moderate hypotonia; moderate developmental delay; normal vision; normal hearing; no seizures; medial flare eyebrows; apparent telecanthus with proptosis, epicanthus inversus; depressed nasal bridge; mid-face hypoplasia; normal mouth; normal ears; normal neck; normal skin 1 1 Johan den Dunnen
00443865 - - - F yes Turkey - - - - - DD Spastic diplegia (HP:0001264) Bulbar signs (HP:0002483) Flexion contracture (HP:0001371) 1 1 Ece Sonmezler
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.