All individuals with variants in gene NR4A2

15 entries on 1 page. Showing entries 1 - 15.
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00453431 36102 - - M no ? (unknown) - - - - - ID Macrocephaly, Intellectual disability, Seizure, Hypotonia, EEG abnormality, Language impairment, Progressive macrocephaly, Postnatal macrocephaly, Neurodevelopmental delay 1 1 Andreas Laner
00464314 - - - F - - (not applicable) - - - - - autism HP:0000717, HP:0000729, HP:0000750, HP:0001256, HP:0001268, HP:0002474, HP:0004322, HP:0007018, HP:0011446 1 1 Marketa Wayhelova
00471346 Pat3;CB-DYS-154 PubMed: Singh 2020, PubMed: Zech 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DYT see paper; ..., seizures; moderate developmental delay; mild-moderate intellectual disability; MRI brain gliosis; choreoathetoid movements, ataxic gait; combined dystonia; onset infancy (0-2y); focal dystonia; dystonic cerebral palsy 1 1 Johan den Dunnen
00471403 Pat1 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., 6y6m-seizures; global developmental delay; severe intellectual disability; autism; MRI brain normal; neurologic examination normal; sleeping difficulties 1 1 Johan den Dunnen
00471404 Pat2 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., 10y-seuizures; global developmental delay; speech/language impairment; motor delay; mild intellectual disability; hyperactivity, anxiety; MRI brain normal; mild hypotonia; Ehlers-Danlos syndrome hypermobility 1 1 Johan den Dunnen
00471405 Pat4 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., 5m-seizures; global developmental delay; severe intellectual disability; no behavioral problems; MRI brain moderate cerebellar atrophy; severe hypotonia, feeding difficulties, dystonia 1 1 Johan den Dunnen
00471406 Pat5 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no seizures; global developmental delay; speech/language impairment; motor delay; mild intellectual disability; attachment disorder, hyposensitivity; mild hypotonia, no movement disorder 1 1 Johan den Dunnen
00471407 Pat6 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., 6m-seizures; global developmental delay; speech/language impairment; motor delay; sensory sensitivity; MRI brain pontine hypoplasia, ventriculomegaly; severe hypotonia, feeding difficulties; facial dysmorphism, sleep disordered breathing 1 1 Johan den Dunnen
00471408 Pat7 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no seizures; global developmental delay; speech/language impairment; motor delay; moderate intellectual disability; no behavioral problems; MRI brain normal; hypotonia; mild joint hypermobility, shagreen spot, hypopigmented spot 1 1 Johan den Dunnen
00471409 Pat8 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no seizures; global developmental delay; speech/language impairment; motor delay; moderate-severe intellectual disability; no behavioral problems; MRI brain normal; mild generalized hypotonia; facial dysmorphism, joint hypermobility 1 1 Johan den Dunnen
00471410 Pat9 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., 13y-seizures; moderate developmental delay; moderate-severe intellectual disability; hyperactivity, aggression; MRI brain enlarged cerebrospinal fluid spaces; progressive ataxia in adulthood 1 1 Johan den Dunnen
00471411 Pat1 PubMed: Wirth 2020 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - DYT see paper; ..., 29y-early onset dystonia parkinsonism, intellectual disability, epilepsy; 26y-general tonic-clonic seizures; developmental delay; prominent language impairmen (4y-speech) 1 1 Johan den Dunnen
00471412 Pat2 PubMed: Wirth 2020 2-generation family, 1 affected, unaffected parents (deceased) F - - - - - - - ID see paper; ..., mild intellectual disability; 30y-left-handed tremor, behavioral changes (physical inactivity, clumsiness); 40y-dystonia, bradykinesia, rigidity (prominently affecting left side body) 1 1 Johan den Dunnen
00471413 patient PubMed: Ramos 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Brazil - - - - - NDD see paper; ..., epilepsy, language impairment, intellectual deficiency; infancy poor feeding, gagging due regurgitation, colic; normal motor development, normal growth parameters, delayed speech development; no dysmorphic features; 5y-seizures during sleep 1 1 Johan den Dunnen
00472694 Pat20 Journal: Yepez 2026 patient F - - - - - - - NMD epileptic encephalopathy 1 1 Johan den Dunnen
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