All individuals with variants in gene CTNNB1

100 entries on 1 page. Showing entries 1 - 100.
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     
00050427 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, motor delay, delayed speech and language development, short stature 1 1 Johan den Dunnen
00050446 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, specific learning disability, full cheeks, ataxia, hypermetropia, open mouth, aggressive behavior 1 1 Johan den Dunnen
00050452 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, global developmental delay, low-set ears, limb dystonia, abnormality of refraction, blue sclerae, sandal gap, delayed speech and language development 1 1 Johan den Dunnen
00050466 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? frontal upsweep of hair, high-arched palate, childhood-onset truncal obesity, gynecomastia, brachydactyly syndrome, generalized hypopigmentation, achilles tendon contracture 1 1 Johan den Dunnen
00050705 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, delayed speech and language development, abnormal hair pattern, abnormality of earlobe, muscular hypotonia of the trunk 1 1 Johan den Dunnen
00080917 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - NEDSDV;MRD19 Mental retardation, autosomal dominant 19 (OMIM:615075) 1 1 Daniel Trujillano
00081006 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - NEDSDV;MRD19 Mental retardation, autosomal dominant 19 (OMIM:615075) 1 1 Daniel Trujillano
00090556 - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090557 - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090558 - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090559 - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090560 - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090561 - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090562 - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090563 - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00183067 23033978-Trio70 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00207734 - - - M - Germany - - - - - - HP:0000637 (Long palpebral fissure); HP:0001212 (Prominent fingertip pads); HP:0000252 (Microcephaly); HP:0001263 (Global developmental delay) 1 1 Andreas Laner
00207889 28771251-Pat43 PubMed: Lionel 2018 - M - Canada - - - - - ? Global developmental delay; spasticity; microcephaly 1 1 Johan den Dunnen
00219180 - - - ? - - - - - - - ? HP:0002652 (Skeletal dysplasia) 1 1 IMGAG
00248854 F258 PubMed: Panagiotou 2017 3 affected individuals spanning 2 generations F - United States Hawaiian of Japanese origin - - - - EVR7 - 1 3 Carmel Toomes
00248855 F410 PubMed: Panagiotou 2017 Autosomal dominant 3 generation family with reduced penetrance M - Japan - - - - - EVR7 Presented at 11 years of age with very low vision. Fundus examination showed retinal avascularity, exudation, retinal holes, and bilateral retinal detachment, for which he underwent buckle surgery in both eyes 1 1 Carmel Toomes
00248856 - PubMed: Dixon 2016 - M - United States - - - - - EVR7 familial exudative vitreoretinopathy (HP:0030490), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729) 1 1 Carmel Toomes
00249413 QT2648 PubMed: Sun 2019 - F - China - - - - - EVR7 - 1 1 Carmel Toomes
00249414 QT1615 PubMed: Sun 2019 - F no China - - - - - EVR7 - 1 1 Dimitra Ilektra Lerou
00249415 QT409 PubMed: Sun 2019 - M - China - - - - - EVR7 Syndromic Familial Exudative Vitreorepinopathy 1 1 Jasmine Chen
00249416 QT1504 PubMed: Sun 2019 - M no China - - - - - EVR7 - 1 1 Dimitra Ilektra Lerou
00262088 Patient 1 (daughter) PubMed: Wang 2019 2-generation family, affected mother/daughter F ? China - 27y - - - EVR;FEVR HP:0001249 Intellectual Disability HP:0000565 Esotropia HP:0001270 Motor Delay HP:0000541 Retinal Detachment 1 2 Dimitra Ilektra Lerou
00262094 Patient 2 (mother) PubMed: Wang 2019 2-generation family, affected mother/daughter F ? China - 49y - - - EVR;FEVR HP:0001249 Intellectual Disability HP:0000565 Esotropia HP:0001270 Motor Delay 1 1 Dimitra Ilektra Lerou
00262095 Patient 1 PubMed: Karolak 2019 - M no United States white 00y04m - - - EVR7 HP:0000252 Microcephaly HP:0001249 Intellectual Disability HP:0001257 Spasticity HP:0002878 Respiratory Failure 1 1 Dimitra Ilektra Lerou
00265257 QT409 PubMed: Sun 2019 - M no China - - - - - EVR;FEVR corneal opacity, occlusion of pupil, temporal dragging of optic disc, retinal detachment 1 1 Johan den Dunnen
00265293 Patient 1 Kharbanda 2017 PubMed: Kharbanda 2017 - M - United Kingdom (Great Britain) White British 06y02m - no - ID Intellectual disability HP:0001249 Single supernumerary upper incisor bilateral orchidopexies 1 1 Dimitra Ilektra Lerou
00265294 Patient 2 Kharbanda 2017 PubMed: Kharbanda 2017 - M ? United Kingdom (Great Britain) Scottish white 03y03m - no - ID birth 40w, 3.05 kg; neurodevelopmental delay (HP:0012758) 1 1 Dimitra Ilektra Lerou
00265295 Patient 3 Kharbanda 2017 PubMed: Kharbanda 2017 - F ? United Kingdom (Great Britain) Midelle Eastern Iran/Lebanon 09y02m - no - ID Fair skin and hair; birth 38w, 2.5kg; neurodevelopmental delay (HP:0012758); speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00265296 Patient 4 Kharbanda 2017 PubMed: Kharbanda 2017 - M ? United Kingdom (Great Britain) White British 14y - no - ID fiar hair and skin; birth 41w, 3.4 kg; motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00265297 Patient 5 Kharbanda 2017 PubMed: Kharbanda 2017 - F - United Kingdom (Great Britain) Egyptian 11y - - - ID birth 40w, 2.7 kg; intellectual disability (HP:0001249); motor delay (HP:0001270); moderate-severe speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00265298 Patient 6 Kharbanda 2017 PubMed: Kharbanda 2017 - F no United Kingdom (Great Britain) White British 27y - no - ID fair hair and skin; birth 39w, 2.92 kg; poor speech (HP:0002465) 1 1 Dimitra Ilektra Lerou
00265299 Patient 7 Kharbanda 2017 PubMed: Kharbanda 2017 - F no United Kingdom (Great Britain) white 13y - - - ID described as clear with pigmented patch; birth 41w, 3.118 kg; motor delay (HP:0001270); mild-moderate speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00265300 Patient 8 Kharbanda 2017 PubMed: Kharbanda 2017 - F - United Kingdom (Great Britain) white 07y - no - ID fair skin and hair; birth 42w, 3.1 kg; motor delay (HP:0001270); no speech (HP:0001344) 1 1 Dimitra Ilektra Lerou
00265302 Patient 9 Kharbanda 2017 PubMed: Kharbanda 2017 - F no United Kingdom (Great Britain) white 07y - no - ID birth 41w, 3.145 kg; motor delay (HP:0001270); mild-moderate speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00265303 Patient 10 Kharbanda 2017 PubMed: Kharbanda 2017 - F ? (United Kingdom (Great Britain)) Morocco;Jewish-Shepardic 09y - no - ID birth 40w, 2.98 kg; motor delay (HP:0001270); mild-moderate speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00265304 Patient 1 Li 2017 PubMed: Li 2017 - M no China - 01y03m - yes - EVR;FEVR Retinal detachment HP:0000541 Vitreous floaters HP:0100832 Microcephaly HP:0000252 Global developmental delay HP:0001263 1 1 Dimitra Ilektra Lerou
00265305 Patient 1 Dixon 2016 PubMed: Dixon 2016 - M no China - 01y10m - yes - EVR;FEVR Autism HP:0000717 Global developmental delay HP:0001263 Lipomeningocele HP:0030710 Retinal fold HP:0008052 Retinal detachment HP:0000541 1 1 Dimitra Ilektra Lerou
00265309 Patient4 PubMed: Tucci 2014 - F ? - - 14y - no - ID Intellectual disability HP:0001249; Autistic behavior HP:0000729; Spastic diplegia HP:0001264; Hypoplasia of the brainstem HP:0002365; Microcephaly HP:0000252; mild intellectual disability (HP:0001256); global developmental delay (HP:0001263) 1 1 Dimitra Ilektra Lerou
00265314 Patient 1 Kuechler 2015 PubMed: Kuechler 2015 - M no Germany - 08y06m - yes - ID Global developmental delay HP:0001263; Microcephaly HP:0000252; Neonatal hypotonia HP:0001319; Strabismus HP:0000486; Hypermetropia HP:0000540; Syringomyelia HP:0003396; single umbilical artery, normal weight and length but primary microcephaly (−2.79 SD); intellectual disability (HP:0001249); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00265327 Patient 2 Kuechler 2015 PubMed: Kuechler 2015 - F no Bangladesh - 05y - yes - ID Aphasia HP:0002381; Muscular hypotonia of the trunk HP:0008936; Lower limb hypertonia HP:0006895; birth 37w, normal birth weight and length but small OFC (−2.1 SD); intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); neurodevelopmental delay (HP:0012758); no speech (HP:0001344); loss of speech (HP:0002371) 1 1 Dimitra Ilektra Lerou
00265438 - PubMed: Fu 2018 patient included among primary lung adenocarcinomas cases; asymptomatic; history of smoking; no co-existing disease; physical examination, respiratory function and blood examinations all normal M ? China - - - - - cancer, lung fetal adenocarcinoma of the lung 1 1 Rosemary Ekong
00269339 - - - M - - - - - - - ? Abnormality of movement (HP:0100022); Intellectual disability (HP:0001249); Abnormality of nervous system physiology (HP:0012638); Choreoathetosis (HP:0001266); Dystonia (HP:0001332); Involuntary movements (HP:0004305) 1 1 Andreas Laner
00273459 Patient2 PubMed: Tucci 2014 - F ? Netherlands white 29y - - - ID Intellectual disability HP:0001249 Autistic behavior HP:0000729 Spastic diplegia HP:0001264 Hypoplasia of the brainstem HP:0002365 Microcephaly HP:0000252; Aphasia HP:0002381; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); severe speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00273460 Patient1 PubMed: Tucci 2014 - M ? Netherlands white 04y - - - ID Intellectual disability HP:0001249; Aphasia HP:0002381; Hypoplasia of the brainstem HP:0002365 Microcephaly HP:0000252; Hypermetropia HP:0000540; borderline intellectual disability (HP:0006889); motor delay (HP:0001270); nasal speech (HP:0001611); articulation difficulties (HP:0009088); dysarthria (HP:0001260) 1 1 Dimitra Ilektra Lerou
00273461 Patient3 PubMed: Tucci 2014 - F - - - - - - - ID - 1 1 Dimitra Ilektra Lerou
00273462 Patient 1 Panagiotou 2017 PubMed: Panagiotoy 2017 2-generation family, affected son with unaffected parents M no China - 00y01m - - - EVR;FEVR Retinal detachment HP:0000541 Vitreous hemorrhage HP:0007902 Rubeosis iridis HP:0025319 1 1 Dimitra Ilektra Lerou
00273464 Patient 2 Panagiotou 2017 PubMed: Panagiotou 2017 3-generation family, affectted (symptomatic) paternal grandmother/father/2 sons- one son carries the gene but is asymptomatic M - Japan - 11y - - - EVR;FEVR Macular exudate HP:0030496 Peripheral retinal avascularization HP:0007685 Retinal hole HP:0011530 Retinal detachment HP:0000541 1 1 Dimitra Ilektra Lerou
00274132 Patient 3 Panagiotou 2017 (daughter) PubMed: Panagiotou 2017 2-generation family, affected father/son/daughter F no Japan;US Minor Outlying Islands Hawaian with Japanese origin ? - - - EVR;FEVR Retinal detachment HP:0000541 Vitreoretinopathy HP:0007773 Vitreomacular traction HP:0031151 Retinal fold HP:0008052 1 3 Dimitra Ilektra Lerou
00274133 Patient 4 Panagiotou 2017 (father) PubMed: Panagiotou 2017 2-generation family, father/son/daughter affected M ? Japan;US Minor Outlying Islands Hawaian with Japanese origin 50y? - - - EVR;FEVR Nystagmus HP:0000639 Corneal opacity HP:0007957 Blindness HP:0000618 1 1 Dimitra Ilektra Lerou
00274134 Patient 5 Panagiotou 2017 (son) PubMed: Panagiotou 2017 2-generation family, father/son/daughter affected M no Japan;US Minor Outlying Islands Hawaian with Japanese origin 10y - - - EVR;FEVR Abnormal retinal morphology HP:0000479 1 1 Dimitra Ilektra Lerou
00274135 Patient 3 Kuechler 2015 PubMed: Kuechler 2015 - F no Turkey - 02y05m - - - ID Motor delay HP:0001270; Delayed speech and language development HP:0000750; Hip dysplasia HP:0001385; Hypertonia HP:0001276; Microcephaly HP:0000252; brith normal measurements; intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); delayed social development (HP:0012434); severe speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00274136 Patient 4 Kuechler 2015 PubMed: Kuechler 2015 - F no Viet Nam - 15y04m - - - ID Motor delay HP:0001270; Delayed speech and language development HP:0000750; Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; Strabismus HP:0000486; brith normal measurements; intellectual disability (HP:0001249); motor delay (HP:0001270); speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00274137 Patient 5 Kuechler 2015 PubMed: Kuechler 2015 - M no Germany white 05y07m - - - ID Motor delay HP:0001270; Delayed speech and language development HP:0000750; Microcephaly HP:0000252; brith normal measurements; intellectual disability (HP:0001249); motor delay (HP:0001270); poor speech (HP:0002465) 1 1 Dimitra Ilektra Lerou
00274138 Patient 6 Kuechler 2015 PubMed: Kuechler 2015 - F no Ireland;Italy;Puerto Rico Mixed European (Italian/Irish) and Puerto Rican ancestry 13y02m - - - ID Global developmental delay HP:0001263; Attention deficit hyperactivity disorder HP:0007018; Anxiety HP:0000739; Abnormality of the spinal cord HP:0002143; Scoliosis HP:0002650; Strabismus HP:0000486; Myopia HP:0000545; Tics HP:0100033; brith normal measurements; mild/moderate intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 2 Dimitra Ilektra Lerou
00274206 Patient 7 Kuechler 2015 PubMed: Kuechler 2015 - M no Ireland;Italy;Puerto Rico Mixed European (Italian/Irish) and Puerto Rican ancestry 10y11m - - - ID Autism HP:0000717; Esotropia HP:0000565; Cerebral palsy HP:0100021; Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; Attention deficit hyperactivity disorder HP:0007018; Microcephaly HP:0000252; Oligodontia HP:0000677; brith normal measurements; mild/moderate intellectual disability (HP:0001249); mild global developmental delay (HP:0011342); speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00274207 Patient 8 Kuechler 2015 PubMed: Kuechler 2015 - M no Italy;Philippines Italian and Filipino decent 01y03m - - - ID Microcephaly HP:0000252; Seizures HP:0001250; Neurodevelopmental delay HP:0012758; Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; Esodeviation HP:0020045; Ventriculomegaly HP:0002119; Dysplastic corpus callosum HP:0006989; Abnormal cortical gyration HP:0002536; Hypoplasia of the brainstem HP:0002365; brith normal weight and length but mild microcephaly; intellectual disability (HP:0001249); global developmental delay (HP:0001263); neurodevelopmental delay (HP:0012758); poor speech (HP:0002465) 1 1 Dimitra Ilektra Lerou
00274208 Patient 9 Kuechler 2015 PubMed: Kuechler 2015 - M no - - 02y - - - ID Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; brith normal measurements reported; intellectual disability (HP:0001249); motor delay (HP:0001270); poor speech (HP:0002465) 1 1 Dimitra Ilektra Lerou
00274209 Patient 10 Kuechler 2015 PubMed: Kuechler 2015 - F no - - 04y - - - ID Esotropia HP:0000565; Cutis marmorata telangiectatica congenita HP:0025107; brith normal measurements, single umbilical artery; intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); neurodevelopmental delay (HP:0012758); poor speech (HP:0002465) 1 1 Dimitra Ilektra Lerou
00274210 Patient 11 Kuechler 2015 PubMed: Kuechler 2015 - M no - - 08y - - - ID Global developmental delay HP:0001263; Microcephaly HP:0000252; intellectual disability (HP:0001249); global developmental delay (HP:0001263); fine motor development delay (HP:0010862); gross motor development delay (HP:0002194); speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00274211 Pat12;Pat2 PubMed: Kuechler 2015, PubMed: Monroe 2016 - F no Netherlands - 13y - - - ID Strabismus HP:0000486; Autism HP:0000717; intellectual disability (HP:0001249); global developmental delay (HP:0001263); delayed social development (HP:0012434); speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00274212 Patient 13 Kuechler 2015 PubMed: Kuechler 2015 - M no - - 06y - - - ID Axial Hypertonia; Microcephaly HP:0000252; brith normal measurements; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00274213 Patient 14 Kuechler 2015 PubMed: Kuechler 2015 - M no Netherlands - - - - - ID Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; brith normal measurements; intellectual disability (HP:0001249); global developmental delay (HP:0001263); mild-moderate speech delay (HP:0000750) 1 1 Dimitra Ilektra Lerou
00274214 Patient 15 Kuechler 2015 PubMed: Kuechler 2015 - F no - - 03y03m - - - ID Motor delay HP:0001270; Truncal ataxia HP:0002078; Limb hypertonia HP:0002509; intellectual disability (HP:0001249); global developmental delay (HP:0001263); neurodevelopmental delay (HP:0012758);developmental regression (HP:0002376); developmental stagnation (HP:0007281); loss of speech (HP:0002371); incomprehensible speech (HP:0002546) 1 1 Dimitra Ilektra Lerou
00302887 PatA PubMed: Percy 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ? see paper; ... 1 1 Johan den Dunnen
00302982 Pat27 PubMed: Helbig 2016 - - - United States - - - - - seizures Fever related seizures; age onset unknown 1 1 Johan den Dunnen
00307257 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307258 Patient 64 PubMed: Mendonca 2021 patient with retinoblastoma M - Brazil - - - - - RB1 Bilateral 1 1 Vanessa Mendonça
00307729 UK10K_FINDWGA5410768 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307730 UK10K_FINDWGA5411300 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00373715 iw095 - - F no China Chinese - - - - ? HP:0000252; HP:0001252; HP:0002530; HP:0001249; HP:0002539; HP:0001263; HP:0025336; HP:0000750; HP:0009887; HP:0000486; HP:0001999; HP:0012387 1 1 Wenjuan Qiu
00374706 S-2264 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00380224 182575 - - F no Germany - - - - - NEDSDV;MRD19 Delayed speech and language development, Global developmental delay, Gait disturbance, Neurological speech impairment, Language impairment, Poor speech, Embryonal neoplasm, Teratoma, Neurodevelopmental delay, Abnormality of movement, Germ cell neoplasia 1 1 Andreas Laner
00385461 14013821 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00385912 V2.87 PubMed: Prasad 2016 - F - - - - - - - STHAG syndromic selective tooth agenesis, intellectual disability 1 1 Johan den Dunnen
00416623 ? PubMed: Dixon 2016 - M - - - - - - - retinal disease Autism HP:0000717 Global developmental delay HP:0001263 Lipomeningocele HP:0030710 Retinal fold HP:0008052 Retinal detachment HP:0000541; 1y10m: depth perception problems; medical history: lipomyelomeningocele, failure to thrive, short stature, developmental delay, and behaviors on the autism spectrum; born at 34 and 1/7 week gestation, birth weight: 1842 g but natural history not consistent with retinopathy of prematurity; newborn screening: normal; bilateral hyperopic astigmatism; prescribed spectacles; 3y: left eye preference - retinal detachment; normal anterior segments of both eyes; fundoscopy: right eye: exudative macular detachment with retinal elevation in the peripapillary area extending to the inferotemporal periphery, initial stages of retinal fold formation in the posterior pole with a falciform fold in the inferotemporal periphery, vitreous overlying this fold was abnormal and generating traction, and exudates were present at the base of the fold; retinal periphery markedly avascular; left eye: elevated optic nerve, a normal macula, and premature pruning of the temporal retinal vessels; fluorescein angiography: right eye: early leakage from the abnormal retinal vessels, peripheral vessels pruned off with complete avascularity of the far periphery; left eye: similar peripheral vascular pruning temporally more than nasally; laser photocoagulation of the peripheral retina, subsequently underwent prophylactic laser photocoagulation of the left eye several weeks later 1 1 LOVD
00421411 ? PubMed: Coussa 2020 - - - - - - - - - retinal disease born at 39-week gestation with a birth weight of 3146 g; uncomplicated pregnancy and delivery; initial visual acuity: fair fixation and following; fundus characteristics: both eyes falciform retinal folds extending from optic discs to temporal retina, peripheral retinal avascularity (confirmed on fluorescein angiography); fundus characteristics: myopia post scleral buckle; systemic findings: microcephaly and mild motor delay; disease course and follow-up: left eye fold with subretinal fluid at presentation both eyes argon laser photocoagulation and scleral buckle surgery at age of 2 month; left eye had also an additional pars plana vitrectomy to separate the posterior hyaloid; at the 8th month follow-up, the patient was able to fixate and follow both eyes 1 1 LOVD
00421511 ? PubMed: Ke 2020 ? F - - - - - - - retinal disease pregnancy, ultrasound scan showed intrauterine growth retardation; weight: 2.35 kg at birth; family history: negative for birth defects, developmental delay, intellectual delay, and/or any other neurological disorders; normal neonatal period, motor retardation (not able to raise her head at 3m); craniofacial dysmorphism; microcephaly; polydactyly; hypotonia; 4m: ophthalmologic examination: blindness in the left eye when her parents wanted to treat strabismus her left eye; ultrasonic examination: a retinal detachment in the left eye; right eye: normal; 15m: raised her head but unstably, not able to sit; language delayed development; able to make some sounds, but cannot; intelligence lower than her peers as judged by the parents: physical examination: weight 7.5 kg (-2.46 SD), height 72.5 cm(-2.29 SD), occipitofrontal circumference 41 cm (-4.17 SD), anterior frontal was closure, light hair color, fair skin, low set ears, flat nasal bridge, strabismus in the left eye, thin upper lip, polydactyly in the right hand, but not in the feet; systolic murmur of grade 2/6 in the 3–4 intercostals of the precordial area; lung and abdomen are normal; tension of trunk and peripheral limbs decreased significantly; bilateral tendon reflexes were weakened, Babbitt’s sign was negative, and no sign of spastic paralysis; auxiliary examination: the whole blood count, urine routine test biochemical test, thyroid function, and the level of 25 (OH) D3 were all normal; color Doppler echocardiography: atrial septal defect, right heart enlargement, pulmonary hypertension, and tricuspid regurgita 1 1 LOVD
00421526 Patient 1 PubMed: Rossetti 2020 - M - - - - - - - retinal disease born at 36 weeks 5 days gestation, pregnancy complicated by oligohydramnios; microcephaly; poor feeding/ poor weight gain; globally developmentally delayed; magnetic resonance imaging of the brain: structurally normal; magnetic resonance imaging of the spine: possible tethered cord, for which the patient underwent surgery; hypotonic in the trunk and upper extremities, spastic in the lower extremities; ophthalmologic exam: intermittent exotropia with suspected amblyopia of the right eye; mild hyperopia 1 1 LOVD
00421527 Patient 2 PubMed: Rossetti 2020 - M - - - - - - - retinal disease delivery induced due to poor fetal growth; pregnancy complicated by gestational diabetes; microcephaly at birth; poor weight gain and short stature in childhood; globally developmentally delayed; repetitive behaviors and occasional bites and pinches of other people; restless leg syndrome; bradykinesia and toe walking; hypertonia in the lower extremities; magnetic resonance imaging of the brain: structurally normal; ophthalmologic exam: mild intermittent esotropia, mild hyperopia, mild astigmatism 1 1 LOVD
00421528 Patient 3 PubMed: Rossetti 2020 - F - - - - - - - retinal disease born at term after being noted to have poor growth in utero, small for gestational age at birth; microcephaly; no feeding issues; constipation; gross and fine motor delays, and some articulation issues but otherwise normal speech development; repetitive behaviors of hand-wringing and nail-picking; overall hypotonic, spasticity in the lower extremities bilaterally; duplicated left thumb; ophthalmologially history of retinal detachment repair and lensectomy in infancy (right eye) and early childhood (left eye), following retinal detachment thought to be secondary to FEVR, with mild microcornea, aphakic glaucoma, and legal blindness in the right eye, and total retinal detachment with no light perception in the left eye 1 1 LOVD
00421529 Patient 4 PubMed: Rossetti 2020 - F - - - - - - - retinal disease small for gestational age; microcephaly at birth after a reportedly uncomplicated prenatal course; global developmental delay, feeding aversion, poor weight gain; type I diabetes; hypotonic though her tone did seem to improve as she grew older; magnetic resonance imaging of the brain: unremarkable, but on spectroscopy, abnormal lactate peak; ophthalmologic exam: bilateral tractional vitreoretinopathy with history of bilateral retinal detachments as well as strabismus, hyperopia, and astigmatism 1 1 LOVD
00421530 Patient 5 PubMed: Rossetti 2020 - M - - - - - - - retinal disease born prematurely at 24 weeks of gestation, discharged from the neonatal intensive care unit at 84 days of life; microcephaly: not noted at birth, but did develop as he progressed into early childhood; feeding difficulties, reflux, silent aspiration, and constipation; underwent tonsillectomy and adenoidectomy for sleep apnea; global developmental delay; autism spectrum disorder; self-injurious behaviors; truncal hypotonia with hypertonicity in the distal extremities; choreiform movements and intention tremor; magnetic resonance imaging of the brain: unremarkable; ophthalmologically: retinopathy of prematurity in addition to cortical visual impairment and strabismus 1 1 LOVD
00421531 Patient 6 PubMed: Rossetti 2020 - M - - - - - - - retinal disease microcephaly at birth; global developmental delay with absent speech; mild asthma; hypotonia with spasticity in the lower extremities; computer tomography and electroencaphalography of the head: normal; ophthalmologic exam: normal 1 1 LOVD
00421532 Patient 7 PubMed: Rossetti 2020 - M - - - - - - - retinal disease intrauterine growth restriction prenatally (as part of a twin gestation); microcephaly at birth; murmur - echocardiogram: dysplastic and bicuspid pulmonary valve that is now status post valvuloplasty; global developmental delay, absent speech, and self-injurious behaviors, as well as a history of screaming spells; feeding issues and chronic diarrhea - failure to thrive; hypotonia; brain magnetic resonance imaging: only microcephaly and brachycephaly and electroencaphalography: normal; ophthalmologic exam: hyperopia, astigmatism, and esotropia of the left eye 1 1 LOVD
00428036 A240 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00431190 Fam1 PubMed: He 2023 2-generation family, 1 affected, unaffected non carrier parents F - China - - - - - EVR;FEVR see paper 1 1 Johan den Dunnen
00431191 Fam2 PubMed: He 2023 2-generation family, 1 affected, unaffected non carrier parents F - China - - - - - EVR;FEVR see paper 1 1 Johan den Dunnen
00431192 Fam3 PubMed: He 2023 2-generation family, 1 affected, unaffected non carrier parents M - China - - - - - EVR;FEVR see paper 1 1 Johan den Dunnen
00433378 252225 - - M no Germany - - - - - NEDSDV;MRD19 Autistic behavior, Motor delay, Global developmental delay, Intellectual disability, Spastic gait, Ataxia, Abnormal temper tantrums, Hyperactivity, Axial hypotonia, Hypermetropia 1 1 Andreas Laner
00434046 - - - ? - - - - - - - ID intellectual disability, developmental regression, developmental delay 1 1 Marketa Wayhelova
00435201 227991 - - F no ? (unknown) - - - - - NEDSDV;MRD19 Neurodevelopmental delay, Hypotonia, Microcephaly, Expressive language delay, Delayed gross motor development 1 1 Andreas Laner
00436305 269176 - - M no Germany - - - - - NEDSDV;MRD19 Neurodevelopmental abnormality, Intellectual disability, Dystonia, Hyperreflexia, Microcephaly, Attention deficit hyperactivity disorder, Esodeviation, Delayed speech and language development, Motor delay, Failure to thrive, Gait ataxia 1 1 Andreas Laner
00440347 Pat12;PED1315.1 PubMed: Thevenon 2016, PubMed: Nambot 2018 - F - France - - - - - NDD epilepsy; facial dysmorphism 1 1 Johan den Dunnen
00449823 - - - F - - (not applicable) - - - - - ID HP:0002342, HP:0000252, HP:0001250, HP:0002937, HP:0001264,HP:0001999 1 1 Marketa Wayhelova
00465218 - - - M - - (not applicable) white - - - - NDD HP:0001256, HP:0001263, HP:0001257, HP:0002385, HP:0030490 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.