All individuals with variants in gene ANKRD11

91 entries on 1 page. Showing entries 1 - 91.
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00016589 - PubMed: Xia 2014 2-generation family, 1 affected M ? (United States) European - - - - ? intellectual disability, (moderate to severe), no words, noncommunicating autism; 15m-sitting; no independent ambulation, hypotonia, failure to thrive, upturned earlobes, hypertelorism, esotropia, flat nasal bridge, suspected tracheomalacia in infancy, history of snoring; no macrodontia, no skeletal defects, nor other features of KGB syndrome 1 1 Marianne Vos (LOVD-team)
00019951 Fam1PatA-E PubMed: Ockeloen 2015 family, 5 affecteds (2F, 3M) F;M - (Netherlands) white - - - - KBGS - 1 5 Helger Yntema
00019952 Pat2 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - 1 1 Helger Yntema
00019953 Pat3 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - 1 1 Helger Yntema
00019954 Pat4 PubMed: Ockeloen 2015 - F - (Netherlands) - - - - - KBGS - 1 1 Helger Yntema
00019955 Pat5 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - 1 1 Helger Yntema
00019956 Pat6 PubMed: Ockeloen 2015 - F - (Netherlands) - - - - - KBGS - 1 1 Helger Yntema
00019957 Fam7PatA-C PubMed: Ockeloen 2015 family, 3 affecteds (2F, M) F;M - (Netherlands) - - - - - KBGS - 1 3 Helger Yntema
00019958 Pat8 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - 1 1 Helger Yntema
00019959 Pat9;Pat4 PubMed: Ockeloen 2015, PubMed: Monroe 2016 2 generation family, affected twins (F, M), unaffected non carrier parents F - (Netherlands) - - - - - KBGS - 1 2 Helger Yntema
00019960 Pat10 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - 1 1 Helger Yntema
00019961 Pat11 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - KBGS - 1 1 Helger Yntema
00019962 Fam12PatA-B PubMed: Ockeloen 2015 family, 2 affecteds (2F) F - (Netherlands) - - - - - KBGS - 1 2 Helger Yntema
00025861 - PubMed: Parenti 2015, Journal: Parenti 2015 - F no Germany - - - - - CDLS see paper; ... 1 1 Ilaria Parenti
00025862 - PubMed: Parenti 2015, Journal: Parenti 2015 - M no Italy - - - - - CDLS see paper; ... 1 1 Ilaria Parenti
00050381 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, trigonocephaly, hypertelorism, long palpebral fissure, abnormality of the lower limb, arachnodactyly, aplasia/hypoplasia of the extremities 1 1 Johan den Dunnen
00050385 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? cubitus valgus, joint stiffness, specific learning disability, mild short stature, dislocated radial head, triangular face, thoracic kyphosis, aggressive behavior 1 1 Johan den Dunnen
00050480 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? ventricular septal defect, severe postnatal growth retardation, specific learning disability, delayed speech and language development, hyperhidrosis, stereotypic behavior 1 1 Johan den Dunnen
00050481 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, behavioural/psychiatric abnormality, prominent ears, proportionate short stature 1 1 Johan den Dunnen
00050488 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? submucous cleft hard palate, specific learning disability, abnormality of the lip, microcephaly, mild conductive hearing impairment, bifid uvula, widely-spaced maxillary central incisors 1 1 Johan den Dunnen
00050537 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, ventricular septal defect, recurrent respiratory infections, astigmatism, strabismus, upslanted palpebral fissure, prominent nasal bridge, smooth philtrum, thin upper lip vermilion 1 1 Johan den Dunnen
00050604 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? submucous cleft hard palate, attention deficit hyperactivity disorder, intellectual disability, upslanted palpebral fissure, hoarse voice, wide mouth, macrotia, bilateral single transverse palmar creases, broad toe, broad finger 1 1 Johan den Dunnen
00050713 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, autism, wide anterior fontanel, brachycephaly, tall stature, hypoplasia of the supraorbital ridges, abnormal iris pigmentation, downslanted palpebral fissures, convex nasal ridge, thin lips, low-set ears, cryptorchidism, clinodactyly of the 5th finger, turricephaly, large fontanelles, proptosis, inverted nipples 1 1 Johan den Dunnen
00080118 22683032-PatSR596/07 PubMed: Spengler 2012, PubMed: Spengler 2013, for EUCID-SRS consortium - M - - - - - - - ?, SRS;RSS prominent forehead (HP:0011220) 1 1 Zeynep Tümer
00080883 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - KBGS KBG syndrome (OMIM:148050) 1 1 Daniel Trujillano
00111392 S_079 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - - - - KBGS Feeding difficulties, short stature, microcephaly, moderate to severe ID, facial freckling 1 1 Bernt Popp
00144510 - - - M - (Germany) - - - - - ? Absence seizure (HP:0002121); Global developmental delay (HP:0001263) 1 1 IMGAG
00151390 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Short stature (HP:0004322); Seizures (HP:0001250) 1 1 IMGAG
00174388 - - - M - (Germany) - - - - - ? Delayed speech and language development (HP:0000750); Autism (HP:0000717) 1 1 IMGAG
00180155 29286531-Pat07 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? (Pharmacoresistant) epilepsy (HP:0001250), myoclonic absences (HP:0011150), generalized tonic-clonic seizures (HP:0025190), specific learning disability (HP:0001328), facial dysmorphism (HP:0001999). 1 1 Johan den Dunnen
00183679 27620904-Pat24 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00207888 28771251-Pat36 PubMed: Lionel 2018 - F - Canada - - - - - ? Intellectual disability; seizures; generalized hypotonia; abnormal facial shape; short stature 1 1 Johan den Dunnen
00247794 - Journal: Aspromonte 2019 - M - Italy - - - - - KBGS - 1 1 Maria Cristina Aspromonte
00247796 2338.01 - - F - - - - - - - KBGS - 1 1 Maria Cristina Aspromonte
00263970 - - - M - - - - - - - ? Cryptorchidism (HP:0000028); Delayed speech and language development (HP:0000750); Global developmental delay (HP:0001263); Motor delay (HP:0001270); Abnormal facial shape (HP:0001999); Abnormality of fontanelles (HP:0011328) 1 1 IMGAG
00269124 - - - F - - - - - - - ? Short stature (HP:0004322); Global developmental delay (HP:0001263); Autism (HP:0000717); Seizures (HP:0001250); Synophrys (HP:0000664) 1 1 IMGAG
00269525 - PubMed: Minardi 2020 - F - Italy - - - - - EE Epileptic Encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00269556 FamPatI1 PubMed: Sirmaci 2011 2-generation family, 3 affected (3M) M - Turkey - - - - - KBGS macrodontia; low anterior and posterior hairlines, brachycephaly, triangular face, synophrys, long palpebral fissures, hypertelorism, ptosis, prominent nasal bridge, anteverted nostrils, long philtrum, large and prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers; short stature; seizures, mild-moderate intellectual disability; delayed bone age; accessory cervical ribs; cryptorchidism 1 3 Johan den Dunnen
00269557 FamPatII1 PubMed: Sirmaci 2011 - M - Turkey - - - - - KBGS macrodontia; low anterior and posterior hairlines, brachycephaly, triangular face, synophrys, long palpebral fissures, hypertelorism, ptosis, prominent nasal bridge, anteverted nostrils, long philtrum, large and prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers; short stature; seizures, mild-moderate intellectual disability, attention deficit hyperactivity disorder; delayed bone age; closed spina bifida; cryptorchidism, mild sensorineural hearing loss 1 1 Johan den Dunnen
00269558 FamPatII2 PubMed: Sirmaci 2011 - M - Turkey - - - - - KBGS macrodontia; low anterior and posterior hairlines, brachycephaly, triangular face, synophrys, long palpebral fissures, hypertelorism, ptosis, prominent nasal bridge, anteverted nostrils, long philtrum, large and prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers; short stature; moderate intellectual disability; thoracic kyphosis, closed spina bifida; cryptorchidism, epispadias 1 1 Johan den Dunnen
00269559 Fam2 PubMed: Sirmaci 2011 2-generation family, 1 affected M - Turkey - - - - - KBGS macrodontia; triangular face with pointed chin, low anterior hairline, long palpebral fissures, ptosis, anteverted nostrils, long philtrum, prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers, cutaneous syndactyly of fingers and toes; short stature; mild intellectual disability; delayed bone age; accessory cervical ribs; cryptorchidism 1 1 Johan den Dunnen
00269560 Fam3 PubMed: Sirmaci 2011 2-generation family, 1 affected M - Turkey - - - - - KBGS macrodontia; prominent forehead, brachycephaly, triangular face, synophrys, long palpebral fissures, hypertelorism, anteverted nostrils, posteriorly rotated ears, long philtrum, short and webbed neck; short hands with clinodactyly of the 5th fingers; no short stature; history of developmental delay, moderate intellectual disability; no costovertebral anomalies; cryptorchidism 1 1 Johan den Dunnen
00269561 Fam4 PubMed: Sirmaci 2011 2-generation family, 1 affected M - Italy - - - - - KBGS macrodontia; low anterior and posterior hairlines, triangular face, ptosis, hypertelorism, prominent nasal bridge, anteverted nostrils, long philtrum, large and prominent ears, short and webbed neck; short hands with clinodactyly of the 5th fingers, cutaneous syndactyly of fingers and toes; short stature; moderate intellectual disability, hyperactivity, anxiety, poor concentration; accessory cervical ribs 1 1 Johan den Dunnen
00269562 Fam5 PubMed: Sirmaci 2011 2-generation family, 1 affected M - Italy - - - - - KBGS low anterior and posterior hairlines, triangular face with pointed chin, synophrys, long and downslanting palpebral fissures, ptosis, hypertelorism, prominent nasal bridge, anteverted nostrils, long philtrum, tented upper lip, prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers; short stature; moderate intellectual disability; delayed bone age; no costovertebral anomalies; cryptorchidism 1 1 Johan den Dunnen
00269889 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Aggressive behavior (HP:0000718); Hypertrichosis (HP:0000998) 1 1 IMGAG
00276057 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Behavioral abnormality (HP:0000708); Short attention span (HP:0000736); Telecanthus (HP:0000506); Short stature (HP:0004322); Delayed closure of the anterior fontanelle (HP:0001476) 1 1 IMGAG
00289302 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Anteverted nares (HP:0000463); Thick lower lip vermilion (HP:0000179); Thick upper lip vermilion (HP:0000215); Low-set ears (HP:0000369); Thick eyebrow (HP:0000574); Synophrys (HP:0000664); Hypertelorism (HP:0000316); Broad neck (HP:0000475) 1 1 IMGAG
00291591 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00291592 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00291593 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295604 - - - F - - - - - - - ? Hearing impairment (HP:0000365); Sleep terror (HP:0030765); Nasal speech (HP:0001611) 1 1 IMGAG
00296786 APN-131 PubMed: Redin 2014 analysis 106 patients; 2-generation family, affected male twins, unaffected heterozygous carrier parents M - France - - - - - ID see paper; ..., severe intellectual disability; evocative symptoms of both SLC2A1 and ANKRD11 variants (major hypotonia, skeletal abnormalities 1 2 Johan den Dunnen
00299445 - - - M - - - - - - - ? Global developmental delay (HP:0001263) 1 1 Andreas Laner
00301087 - - - M - Germany - - - - - ? Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Abnormality of head or neck (HP:0000152); Abnormal facial shape (HP:0001999) 1 1 Andreas Laner
00302677 - - - F - (Germany) - - - - - ? Global developmental delay (HP:0001263); Autistic behavior (HP:0000729); Autism (HP:0000717); Muscular hypotonia (HP:0001252) 1 1 IMGAG
00302959 Pat4 PubMed: Helbig 2016 - - - United States - - - - - seizures Single unprovoked seizure; age onset childhood 1 1 Johan den Dunnen
00302960 Pat5 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset childhood 1 1 Johan den Dunnen
00307316 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Seizures (HP:0001250) 1 1 Andreas Laner
00308025 Pat4 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - ? moderate global developmental delay, short stature, facial dysmorphism 1 1 Johan den Dunnen
00324887 Fam21 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - NDD see paper; ..., birth 40w, weight +0/13SD, OFC -1.3SD; weight -1.7SD, length -2.6SD, OFC -2.07SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; 35m-walk; speech delay; no speech; autistic behaviour; stereotypies; hyperactivity; feeding difficulties; sleeping disturbance; almond eyes; thin upper lip; epicanthus 1 1 Johan den Dunnen
00377570 - - - - - - - - - - - KBGS - 1 1 Ana Latorre
00382753 184941 - - M no Germany - - - - - KBGS Intellectual disability, Global developmental delay, Absent speech, Seizure, Growth delay, Edema of the dorsum of hands, Edema of the dorsum of feet, Behavioral abnormality 1 1 Andreas Laner
00401298 045P - - F no Spain - - - - - ID, KBGS - 1 1 Alejandro Brea-Fernández
00401642 211P - - F no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00401997 191471 - - M ? Turkey - - - - - KBGS Delayed speech and language development, Poor speech, Neurological speech impairment, Abnormality of higher mental function, Abnormal nervous system physiology, Abnormality of the face 1 1 Andreas Laner
00403865 TF042_4 PubMed: Froukh 2020 sib F - Jordan - - - - - NDD aggressive behavior, mild intellectual disability 1 1 Johan den Dunnen
00414242 199193 - - M - Germany - - - - - KBGS Hypospadias, Hypertelorism, Hearing impairment, Long palpebral fissure, Single transverse palmar crease, Motor delay, Neurodevelopmental delay 1 1 Andreas Laner
00415283 1_AD PubMed: Alfares 2018 - M - - - - - - - retinal disease OMIM: 148050; developmental delay, short stature, macrodontia, triangular face, and large and prominent ears 1 1 LOVD
00432294 214326 - - F ? - - - - - - CPPB2, KBGS Generalized non-motor (absence) seizure, Neurodevelopmental delay, Precocious puberty 1 1 Andreas Laner
00434980 YQL - - F no China East Asia - - - - KBGS High-arch and narrow palate, congenital heart defect; fifth finger brachydactyly, short hands, short feet, scoliosis, intellectual disability, short stature, delayed bone age 1 1 Dongye He
00438576 HSC0024 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00440372 PED2231.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00440429 PED3024.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00443473 275800 - - F - Germany - - - - - KBGS Intrauterine growth retardation, Abnormality of prenatal development or birth, Polyhydramnios, Arteria lusoria 1 1 Andreas Laner
00453447 303049 - - F no Germany - - - - - KBGS Neurodevelopmental delay, Microcephaly, Hypertelorism, Autism, Intellectual disability, Infantile muscular hypotonia 1 1 Andreas Laner
00457992 - - - M - - (not applicable) white - - - - NDD HP:0001249, HP:0001270, HP:0004322, HP:0000271 1 1 Marketa Wayhelova
00458105 - - - F - - (not applicable) white - - - - NDD HP:0000252, HP:0002474, HP:0001328, HP:0000736 1 1 Marketa Wayhelova
00458172 - - - M - - (not applicable) white - - - - NDD HP:0000028, HP:0000256, HP:0000666, HP:0001252, HP:0001263, HP:0012758 1 1 Marketa Wayhelova
00458263 - - - M - - (not applicable) white - - - - ? Hp:0000750, HP:0002474, HP:0005487, HP:0000316, HP:0000426, HP:00004141, HP:0000369, HP:0000322, HP:0000319, HP:0000194, HP:0000219, HP:0011304, HP:0004209, HP:0001702, HP:0001633 1 1 Marketa Wayhelova
00459413 - - - F - - (not applicable) white - - - - ? HP:0004481, HP:0011885, HP:0006256, HP:0000271, HP:0410263, HP:0001249 1 1 Marketa Wayhelova
00464552 - - - M no Israel Ashkenazi Jewish - - - - KBGS - 1 1 Tamar Ben-Yosef
00467287 CMH230 PubMed: Soden 2014 family, 1 affected - - United States - - - - - ? - 1 1 Johan den Dunnen
00467788 Fam019PatBAB6938 PubMed: Charng 2016 2-generation family, 1 affected, unaffected non-carrier parents - yes Saudi Arabia - - - - - NDD developmental delay, intellectual disability, hypotonia, esotropia, hyperopia, astigmatism, broad nasal bridge, hypertelorism, epicanthal folds, retrognathia, cryptorchidism 1 1 Johan den Dunnen
00468614 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468615 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468616 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468617 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468618 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468619 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468620 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468621 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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