All individuals with variants in gene BICD2

22 entries on 1 page. Showing entries 1 - 22.
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00101385 - - - M no Germany - - - - - ? Arthrogryposis multiplex congenita, clenched hands, micrognathia, respiratory insufficiency and permanent assisted ventilation. Strongly diminished spontaneous movement of the upper limbs. Spontaneous movement absent from lower limbs. Diminished head control, pectus excavatum. EMG with neurogenic pathology and signs of denervation. 1 1 Markus Storbeck
00101386 - - - F no Norway - 00y04m - - - ? Congenital arthrogryposis multiplex, hypotonia, repiratory failure with lethal outcome. Muscle biopsy with severe myopathic features with atrophy, hypotrophic and necrotic fibers. Advanced myofibrillar breakdown ín EM analysis. 1 1 Markus Storbeck
00101387 - - - M no Germany - 00y01m? - - - ? Prenatal contractures, enlarged head, macroglossia. Polyhydramnios, reduced fetal movements. After birth, reduced spontaneous movement, arthrogryposis multiplex, respiratory insufficiency (assisted ventilation). No response to pain stimuli, areflexia. EMG suggested generalized neurogenic muscular atrophy. Death by respiratory failure after 15 days of life. 1 1 Markus Storbeck
00101388 - - - F no Germany - - - - - ? slight symmetrical distal muscle weakness for plantar flexion (MRC 4+/5). On MRI mild alterations with symmetrical fatty degeneration of the rectus femoris and satorius thigh muscles. All symptoms are subclinical. 1 1 Markus Storbeck
00218992 28902413-Pat2 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - SMA SMA 1 1 Johan den Dunnen
00307180 D13-090 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA hydrops fetalis; arthrogryposis multiplex congenita; pterygium; rocker bottom foot; hand clenching; talipes 1 1 Gianina Ravenscroft
00307186 D14-1209 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - ? arthrogryposis multiplex congenita; muscle weakness 1 1 Gianina Ravenscroft
00307196 D16-0032 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - LMPS bilateral congenital talipes; congenital hip dislocation; knee flexion contracture; cryptorchidism; decreased muscle mass 1 1 Gianina Ravenscroft
00307197 D16-0307 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA arthrogryposis multiplex congenita; bulbar signs; restrictive ventilatory defect; kyphoscoliosis 1 1 Gianina Ravenscroft
00315487 Fam2PatII1 PubMed: Ravenscroft 2016, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Wales;New Zealand European - - - - arthrogryposis see paper; arthrogryposis multiplex congenita; neonatal hypotonia; respiratory distress; bilateral perisylvian polymicrogyria; hand clenching; talipes; micrognathia, ... 1 1 Johan den Dunnen
00315488 Fam1ID22439 PubMed: Ravenscroft 2016, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - arthrogryposis see paper; reduced fetal movements; arthrogryposis multiplex congenita; bilateral perisylvian polymicrogyria; cerebellar hypoplasia; hypoplasia corpus callosum; femur fracture; central apnea; talipes; ulnar deviation of finger; single transverse palmian crease, ... 1 1 Johan den Dunnen
00327457 mother 2-generation family, mother and newborn - F no Portugal - - - - - SMALED2A HP:0002650 scoliosis; HP:0001760 abnormal foot morphology; HP:0002804 arthrogryposis multiplex congenita; HP:0003202 skeletal muscle atrophy 1 2 Francisco Ribeiro-Mourão
00327589 - - - M no Portugal - 00y01m - - - SMALED2A HP:0002747 Respiratory insufficiency due to muscle weakness; HP:0002878 Respiratory failure; HP:0011968 Feeding difficulties;HP:0003202 Skeletal muscle atrophy; HP:0001374 Congenital hip dislocation; HP:0001760 Abnormal foot morphology; HP:0001762 Talipes equinovarus; HP:0002804 Arthrogryposis multiplex congenita;HP:0002119 Ventriculomegaly; HP:0001558 Decreased fetal movement 1 1 Francisco Ribeiro-Mourão
00428160 patient PubMed: Oliwa 2022 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - 00y11m - - - SMALED see paper; ..., 11m-died; antenatal arthrogryposis, postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting lower limbs, poor swallow; 5m-cataracts, ERG abnormal, visual evoked potentials, global developmental impairments 1 1 Johan den Dunnen
00428235 Fam15PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 1 affected F - Germany - - - - - ? reduced fetal movements; contractures hips, knees, ankles, talipes equinovarus (left), sickle foot (right); prominent forehead, four-finger furrow, crossed 2nd and 3rd toe; atonic seizures, cognitive impairment, psychomotor developmental delay, global muscular hypotonia, atrophy of leg muscles, reduced muscle reflexes of the lower extremity, positive babinsky sign (bilateral); bilateral hip dislocation, short stature, two café au lait spots 1 1 Johan den Dunnen
00442635 Pat7 PubMed: Westra 2019 - M - - - - - - - NMD Congenital myopathy, increased tone in legs and Babinski reflex, cryptorchidism, congenital contractures, lordosis, hip dysplasia, proximale muscle weakness (limb-girdle), abnormal gait, positive Trendelenburg test, wheelchair-bound 1 1 Johan den Dunnen
00442636 Pat8 PubMed: Westra 2019 - M - - - - - - - NMD Arthrogryposis multiplex congenital with oligohydramnios, postnatal hip luxation, contractures of knees, mild scoliosis, genu valgus, limb-gridle and axial weakness; muscle biopsy: type 1 fiber size predominance and presence of internal nuclei; CK = 95 U/l 1 1 Johan den Dunnen
00442781 Pat153 PubMed: Westra 2019 - M - - - - - - - NMD - 1 1 Johan den Dunnen
00443417 FamCPatV1 PubMed: Saadi 2023 5-generation family, 8 affected (3F, 5M), unaffected heterozygous parents/relatives F yes Pakistan - - - - - ? gait abnormality, club feet, pes planus, short stature 1 8 Johan den Dunnen
00443418 FamCPatV2 PubMed: Saadi 2023 sister F yes Pakistan - - - - - ? gait abnormality, club feet, pes planus, hip dysplasia 1 1 Johan den Dunnen
00443419 FamCPatV3 PubMed: Saadi 2023 brother M yes Pakistan - - - - - ? gait abnormality, club feet, pes planus, hip dysplasia, upper limbs weakness, short stature, lower motor neuron deterioration symptoms 1 1 Johan den Dunnen
00443420 FamCPatV4 PubMed: Saadi 2023 brother M yes Pakistan - - - - - ? no ambulation, club feet, lower motor neuron deterioration symptoms 1 1 Johan den Dunnen
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