All individuals with variants in gene DONSON

33 entries on 1 page. Showing entries 1 - 33.
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00100641 28191891-P1-1 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 2 affecteds (2F), unaffected heterozygous carrier parents (father not available) F no Italy European - - - - ? microcephalic primordial dwarfism; birth 36w, weight 2000g (-1.6), length 43cm (-2.2), OFC 29 cm (-2.5); 18m length 73cm (-2.4), OFC 38.5 cm (-7.8), mild language delay (HP:0000750), early closure of metopic suture (HP:0005556), mild bilateral blepharophymosis (HP:0000581), mild aneurysm of atrial septum (HP:0011995), patent foramen ovale (HP:0001655) 4 2 Lynn Boekhoudt
00100643 28191891-P1-2 PubMed: Reynolds 2017, Journal: Reynolds 2017 - F no Italy European - - - - ? microcephalic primordial dwarfism; birth 40w, weight 2300g (-2.6), length 47cm (-1.7), OFC 30 cm (-3.7); 15y length 155cm (-1.2), OFC 47.5 cm (-5.6); delayed bone age (HP:0002750), 5th finger clinodactyly (HP:0004209) & brachydactyly (HP:0009237), short middle phalanx (HP:0004220) 4 1 Lynn Boekhoudt
00100659 28191891-P2 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M no (United Kingdom (Great Britain)) European - - - - ? microcephalic primordial dwarfism; birth 40w, weight 2700g (-1.8), OFC 0.4th centile; 7y2m, weight 14.24kg (-4.6), length 105.6cm (-3.3), OFC 42.4 cm (-6.5). Mild to moderate developmental delay (HP:0001263), Delayed bone age (HP:0002750), 5th finger clinodactyly (HP:0004209) & brachydactyly (HP:0009237) No active movement in 1st Interphalangeal Joints (IPJ), Tremor (HP:0001337), (1.6Mb Xp22.31 dup on arrayCGH), blepharophymosis, broad nasal bridge (HP:0000431), cupped ears (HP:0000378), tall forehead(HP:0000348), short tapering fingers (HP:0001182) 4 1 Lynn Boekhoudt
00100660 28191891-P3 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1F), unaffected heterozygous carrier parents F no United Kingdom (Great Britain) European - - - - ? microcephalic primordial dwarfism; birth 40w, weight 2330g (-2.49), length 43cm (-2.2), OFC 29 cm (-2.5); 11y1m length 120.3cm (-3.5), weight 21.4kg. Mild developmental delay (HP:0001263), Delayed bone age (HP:0002750), 5th finger clinodactyly (HP:0004209), 2/3 toe syndactyly (HP:0004691), ANA+ve arthritis 4 1 Lynn Boekhoudt
00100780 28191891-P4 PubMed: Reynolds 2017, Journal: Reynolds 2017 1 affected, no parental samples available F no United Kingdom (Great Britain) European - - - - ? microcephalic primordial dwarfism; birth 37w, weight 3210g (-1.1), length 48cm (-2.0), OFC 27.5cm (-4.2); 5y1m weight 18.4kg (0.0), length 101.5cm (-1.7), OFC 43.5 cm (-6.9), mild to moderate developmental delay (HP:0001263), ADHD (HP:0007018) 4 1 Lynn Boekhoudt
00100781 28191891-P5 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1F), unaffected heterozygous carrier parents F no Somalia Somali - - - - ? microcephalic primordial dwarfism; birth 40w, weight 2380g (-2.4), length 47cm (-1.7), OFC 31 (-2.9); 9y9m length 126.5 (-1.7),weight 23.8kg (-1.7), OFC 43.5 (-8.1), Mild speech delay (HP:0011346), Delayed bone age (HP:0002750), marked posterior lateral subluxation of L elbow, 5th finger camptodactyly (HP:0004209), short middle phalanx (HP:0004220), GORD (HP:0002020), lumbar lordosis (HP:0002938), pes planus (HP:0001763), simplified gyral pattern (MRI) (HP:0009879) 5 1 Lynn Boekhoudt
00100782 28191891-P6 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M no United States European - - - - ? microcephalic primordial dwarfism; birth 39w, weight 2580g (-1.7), OFC 22.86cm (-9.2), Length 45.72cm (-2.3); 11y OFC 42.9cm (-7.4), Length 127.7cm (-2.4). Mild (HP:0011342), Mesomelia(HP:0003027), Seizures (HP:0001250) in early childhood, laryngotracheomalacia(HP:0008755) & aspiration(HP:0002835) as infant, dental crowding(HP:0000678), astigmatism(HP:0000483), GORD(HP:0002020) 4 1 Lynn Boekhoudt
00100933 28191891-P7 PubMed: Reynolds 2017, Journal: Reynolds 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States European - - - - ? microcephalic primordial dwarfism: birth NA, weight 3710g (-5.0), OFC 31.75cm (-9.0), Length 55.88cm (-3.5); 3y3m weight 8.6kg (-5.1), OFC 38.9cm (-9.7), Length 82cm (-3.9). Mesomelia(HP:0003027) 4 1 Lynn Boekhoudt
00100934 28191891-P8 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1F), unaffected heterozygous carrier parents F no Italy - - - - - ? microcephalic primordial dwarfism; birth 39w, weight 2350g (-2.21), OFC 29.5cm (-4.0), Length 45cm (-2.6); 2y10m weight 9.3kg (-4.1), OFC 42cm (-6.7), length 87cm (-2.0). Mild developmental delay (HP:0011342) Mild 2 1 Lynn Boekhoudt
00100935 28191891-P9 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents (father not available) M no Turkey - - - - - ? Microcephalic Primordial Dwarfism; birth Term, weight NA, OFC NA, length “short”; 12y6m, weight 27.5kg (-2.5), OFC 46.5cm (-5.4), length 130cm (-2.8). Normal development, 5th finger clinodactyly (HP:0004209), 5th toe brachydactyly (HP:0011917) and broad, bilateral hypoplastic patellae with subluxation (HP:0010499). Bilateral oedema on eyelids (HP:0100540), hypoplastic ear lobule (HP:0008551), thin eyebrows (HP:0000535) , broad nasal bridge (HP:0000431), pointed chin (HP:0000307); MRI asymmetric right lateral ventricle (HP:0100960). 2 1 Lynn Boekhoudt
00100936 28191891-P10-1 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F no India - - - - - ? Microcephalic Primordial Dwarfism; birth 32w, weight 1800g (0.2), OFC NA, length NA; 8y weight NA, OFC 43cm (-8.2), length 110.5cm (-2.9). Mild development (HP:0011342), Delayed bone age (HP:0002750), 5th finger clinodactyly (HP:0004209), genu valgum (HP:0002857), Hypoplastic teeth(HP:0000685) 2 2 Lynn Boekhoudt
00100937 28191891-P10-2 PubMed: Reynolds 2017, Journal: Reynolds 2017 - M no India - - - - - ? - 2 1 Lynn Boekhoudt
00100938 28191891-P11 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) - - - - ? Microcephalic Primordial Dwarfism; birth NA, weight 3200g (-0.7), OFC NA, length NA; 10m weight NA, OFC 36cm (-9.2), length 67cm (-2.5). Cleft palate (HP:0000175) 1 1 Lynn Boekhoudt
00100939 28191891-P12 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1F), unaffected heterozygous carrier parents (no parental samples available) F yes Saudi Arabia Middle eastern (Saudi) - - - - ? Microcephalic Primordial Dwarfism; birth NA, weight NA, OFC NA, length NA; 13y6m weight 25.9kg (-4.0), OFC 40.5cm (-10.7), length 130.5 (-4.0). Moderate development (HP:0011343), Absent patella (HP:0006443), R radial head and humerus synostosis (HP:0002974), 5th finger brachydactyly (HP:0001156), short middle phalanx (HP:0004220), carpal bones synostosis (HP:0005048) and hypoplasia (HP:0006502). 1 1 Lynn Boekhoudt
00101211 28191891-P13-1 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents F yes Palestine Middle eastern (Palestinian) - - - - ? Microcephalic Primordial Dwarfism; birth 40w, weight 3000-3200g (-0.9 to -0.5), OFC 32cm (-1.4), length 50cm (-1.0); 7y11m weight NA, OFC 48cm (-4.1), length 113cm (-2.5). Normal development, Elbow dysplasia (HP:0009811), hypoplastic proximal ulna (HP:0010601), radial head dislocation(HP:0003083), dysplastic thumbs(HP:0009601), Hypopigmented ‘rain drop’ rash(HP:0001053). No haematological abnormalities. FA testing negative (DEB/MMC) 1 3 Lynn Boekhoudt
00101212 28191891-P13-2 PubMed: Reynolds 2017, Journal: Reynolds 2017 - F yes Palestine Middle eastern (Palestinian) - - - - ? Microcephalic Primordial Dwarfism; birth 40w, weight 3000-3200g (-0.9 to -0.5), OFC 32cm (-2.1), length 46cm (-2.3); 5y5m weight NA, OFC 46cm (-4.9), length 93cm (-4.0). Normal development, Elbow dysplasia(HP:0009811), radial head dislocation(HP:0003083), hypoplasia of 1st metacarpal & phalanges(HP:0006070), No haematological abnormalities. FA testing negative 1 1 Lynn Boekhoudt
00101213 28191891-P13-3 PubMed: Reynolds 2017, Journal: Reynolds 2017 - M yes Palestine Middle eastern (Palestinian) - - - - ? Microcephalic Primordial Dwarfism; birth 40w, weight 3000-3200g (-1.2 to -0.7), OFC 50th centile, length 3rd centile; 1y7m weight NA, OFC 46cm (-2.7), length 78cm (-1.6). Normal development, Genu vara(HP:0002970), Hypopigmented ‘rain drop’ rash (HP:0001053). Iron deficiency anemia (HP:0001891), normal FA testing. 1 1 Lynn Boekhoudt
00101214 28191891-P14 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) - - - - ? Microcephalic Primordial Dwarfism; birth 40w, weight NA, OFC NA, length NA; 2y11m weight 8kg (-5.8), OFC 38cm (-9.6), length 84.5cm (-2.9). Moderate development, hyperactive (HP:0000752) short attention span (HP:0000736), aggressive (HP:0000718), frequent tantrums(HP:0025161).Ridge skull sutures(HP:0001363), Closed anterior fontanelle (HP:0005458), hooked nose(HP:0000444), narrow palpebral fissure(HP:0000581), bilateral epicanthic folds(HP:0000286), cleft palate(HP:0000175), mild hypotonia(HP:0001290). 1 1 Lynn Boekhoudt
00101215 28191891-P15 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) - - - - ? Microcephalic Primordial Dwarfism; birth Na, weight 1590g (-4.4), OFC 27cm (-6.4), length 40cm (-5.5); 2y7m weight 8.35 kg(-4.8), OFC 36.5cm (-10.6), length 75cm (-5.0). ID, ADHD(HP:0000752) 1 1 Lynn Boekhoudt
00101216 28191891-P16 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) - - - - ? Microcephalic Primordial Dwarfism; birth NA, weight NA, OFC NA, length NA; 8m weight 4.3kg(-6.5), OFC 32cm (-11.8), length 51cm (-8.4). High pitched voice(HP:0001620) 1 1 Lynn Boekhoudt
00101217 28191891-P17 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) - - - - ? Microcephalic Primordial Dwarfism; birth NA, weight 1900g (-3.6), OFC 27cm (-6.4), length 46cm (-2.5). 11 pairs of ribs (HP:0000878), delayed bone age(HP:0002750), elbow flexion contracture(HP:0002987), fifth finger clinodactyly(HP:0004209), Small anterior fontanelle(HP:0000237), sloping forehead(HP:0000340), micrognathia(HP:0000347), low-set (HP:0000369)and malformed ears(HP:0000377), prominent and beaked nose(HP:0003683), pes planus(HP:0001763), abnormal finger flexion creases(HP:0006143) 1 1 Lynn Boekhoudt
00101218 28191891-P18-1 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents F yes Saudi Arabia Middle eastern (Saudi) - - - - ? Microcephalic Primordial Dwarfism; birth NA, weight 2050g (-3.2), OFC 27.5cm (-5.7), length 44cm (-3.3); 15y weight 27.55kg (5.0), OFC 43.5cm (-8.6), length 134.6 cm(-4.4). Mild development(HP:0011342), Beaked nose(HP:0000444), upslanting palpebral fissures(HP:0000582), epicanthic folds(HP:0000286), posteriorly rotated ears(HP:0000358), bushy eyebrows(HP:0000574), growth hormone has increased height (5cm in 18 months). 1 3 Lynn Boekhoudt
00101219 28191891-P18-2 PubMed: Reynolds 2017, Journal: Reynolds 2017 - M yes Saudi Arabia Middle eastern (Saudi) - - - - ? Microcephalic Primordial Dwarfism; birth NA, weight 2430g (-2.4), OFC 29cm(-4.9), length 43cm (-4.0); 11y weight 16.85kg (-6.2), OFC 41.5cm (-8.2), length 122.5 cm(-3.1). Mild development(HP:0011342), Beaked nose(HP:0000444), upslanting palpebral fissures(HP:0000582), epicanthic folds(HP:0000286), posteriorly rotated ears(HP:0000358), nephrotic syndrome(HP:0000100), growth hormone has increased height (3cm in 5 months) 1 1 Lynn Boekhoudt
00101220 28191891-P18-3 PubMed: Reynolds 2017, Journal: Reynolds 2017 - F yes Saudi Arabia Middle eastern (Saudi) - - - - ? Microcephalic Primordial Dwarfism; birth NA, weight 2245g (-2.7), OFC 29cm (-4.5), length 47cm (-1.7); 8y weight 13.85kg (-5.0), OFC 40.5cm (-10.3), length 110.8 cm(-3.0). Mild development(HP:0011342), Beaked nose(HP:0000444), upslanting palpebral fissures(HP:0000582), epicanthic folds(HP:0000286), posteriorly rotated ears(HP:0000358), nephrotic syndrome(HP:0000100), retrognathia (HP:0000278) 1 1 Lynn Boekhoudt
00101221 28191891-P19 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 1 affected (1M), unaffected heterozygous carrier parents M no Turkey Turkish - - - - ? Microcephalic Primordial Dwarfism; birth 36w, weight 2200g (-1.3), OFC 32cm (-0.6), length 44cm (-1.9); 8y4m weight 25.5kg (-0.2), OFC 50.2cm (-2.4), 111cm (-3.3). Normal development, delayed early speech (HP:0002474), Bilateral hypoplasia of radius and thumb, bilateral symphalangism PIPII and IV(HP:0009773), and pronounced brachymesophalangia II and V, left proximal radio-ulnar synostosis(HP:0003938), Neutropenia(HP:0001875), FA testing negative, Mild genital hypoplasia (HP:0003241), Small external ears (HP:0008551) 1 1 Lynn Boekhoudt
00101222 28191891-P20-1 PubMed: Reynolds 2017, Journal: Reynolds 2017 2 generation family, 2 affecteds (2M), unaffected heterozygous carrier parents M no South Africa - - - - - ? Microcephalic Primordial Dwarfism; birt 40w, weight 1900g (-3.6), OFC 27.5cm (-6.1), length NA; 14y8m weight 22kg (-5.5), OFC 43.7cm (-7.4), length 132cm (-4.2). ID, Short 5th metacarpal(HP:0005914), clinodactyly(HP:0004209), 2-3 toe syndactyly(HP:0001233), absent patella (HP:0006443), joint laxity(HP:0001388), Flat nasal bridge(HP:0005280), microtia(HP:0008551) with absent lobules, micrognathia(HP:0000347), pigmented palmar creases(HP:0010490), cryptorchidism(HP:0000028) 2 2 Lynn Boekhoudt
00101223 28191891-P20-2 PubMed: Reynolds 2017, Journal: Reynolds 2017 - M no South Africa - - - - - ? - 2 1 Lynn Boekhoudt
00101224 28191891-P21-1 PubMed: Reynolds 2017, Journal: Reynolds 2017 4 generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents M yes Saudi Arabia Middle eastern (Saudi) 00y00m00d - - - ? Microcephalic Primordial Dwarfism; birth 30w, weight 800g (-2.8), OFC 17.49cm (-8.5), length NA. Narrow chest(HP:0000774), absent ulna(HP:0003982) and radius(HP:0003974), hypoplastic femur(HP:0011428) and tibia(HP:0005772), severe talipes(HP:0001883), Intrauterine fetal death, oligohydramnios(HP:0001562), severe cystic hygroma(HP:0000476), dilated ventricles(HP:0002119), severe micrognathia(HP:0000347), low-set ears(HP:0000369), microphthalmia(HP:0000568) 1 3 Lynn Boekhoudt
00101225 28191891-P21-2 PubMed: Reynolds 2017, Journal: Reynolds 2017 - F yes Saudi Arabia Middle eastern (Saudi) 00y00m00d - - - ? Microcephalic Primordial Dwarfism; birth 20w, weight NA, OFC 9.81cm (-7.8), length NA. Narrow chest(HP:0000774), upper limbs replaced with stubs(HP:0001467) with no clear digits, hypoplastic femur(HP:0011428) and tibia(HP:0005772), severe talipes(HP:0001883), Intrauterine fetal death, oligohydramnios(HP:0001562), severe cystic hygroma(HP:0000476), dilated ventricles(HP:0002119), severe micrognathia(HP:0000347), low-set ears(HP:0000369), microphthalmia(HP:0000568) 1 1 Lynn Boekhoudt
00133271 - - 2 generation family, 2 affecteds (2F), 4 unaffecteds (3M, 1F) F no Germany European - - - - MIMIS microcephaly radial aplasia 2 2 Martin Atta Mensah
00134048 - - 2 generation family, 2 affecteds (2F), 4 unaffecteds (3M, 1F) F no Germany European - - - - MISSLA - 2 1 Martin Atta Mensah
00207473 - - - F no Germany - - - - - MISSLA - 2 2 Martin Atta Mensah
00433154 199808 - - F ? Syria - - - - - MISSLA Microcephaly, Neurodevelopmental abnormality, Migraine without aura, Abnormal cortical gyration, Hypotonia, Decreased body mass index, Subcortical heterotopia, Intellectual disability, Delayed speech and language development 2 1 Andreas Laner
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