All individuals with variants in gene DYRK1A

46 entries on 1 page. Showing entries 1 - 46.
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00050422 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? intrauterine growth retardation, early cataracts, feeding difficulties in infancy, proportionate short stature, specific learning disability, microcephaly, abnormality of the frontal hairline, single transverse palmar crease, cerebellar atrophy, ventriculomegaly, abnormality of the skin 1 1 Johan den Dunnen
00050449 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, delayed speech and language development, global developmental delay, intrauterine growth retardation, abnormality of the palmar creases, astigmatism, amblyopia, abnormality of the skeletal system, constipation, cleft soft palate 1 1 Johan den Dunnen
00050515 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? smooth philtrum, short philtrum, small chin, abnormality of the lip, long tapered fingers, high pitched voice, long toe, hypertonia, microcephaly, autism 1 1 Johan den Dunnen
00050560 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? seizures, global developmental delay, microcephaly 1 1 Johan den Dunnen
00050601 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? plagiocephaly, microcephaly, seizures, generalized myoclonic seizures, deeply set eye, downslanted palpebral fissures, prominent nasal bridge, smooth philtrum, thin lips, wide mouth, widely spaced teeth, abnormality of the heart, global developmental delay, global developmental delay, abnormality of pyramidal motor function, seizures 1 1 Johan den Dunnen
00050638 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, brachycephaly, abnormality of the pulmonary valve, iris coloboma, micrognathia, eczema, constipation, short stature 1 1 Johan den Dunnen
00057262 - PubMed: Rump 2016 - M yes - - - - - - MRD7 Microcephaly HP:0000252 1 1 Birgit Sikkema-Raddatz
00080988 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - MRD7 Mental retardation, autosomal dominant 7 (OMIM:614104) 1 1 Daniel Trujillano
00143812 - - - M - (Germany) - - - - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00183667 27620904-Pat12 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00207794 - - - F - Germany - - - - - - HP:0001263 (Global developmental delay) 1 1 Andreas Laner
00265645 - - - M - - - - - - - - Hydrocele testis (HP:0000034); Inguinal hernia (HP:0000023); Microcephaly (HP:0000252); Lipoma (HP:0012032); Intellectual disability (HP:0001249) 1 1 Andreas Laner
00269526 - PubMed: Minardi 2020 - F - Romania - - - - - EE Epileptic Encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00292994 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292995 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292996 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00292997 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00296762 APN-58 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - ID moderate intellectual disability 1 1 Johan den Dunnen
00296763 APN-87 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - ID moderate intellectual disability 1 1 Johan den Dunnen
00302988 Pat33 PubMed: Helbig 2016 - - - United States - - - - - seizures Fever related seizures; age onset childhood 1 1 Johan den Dunnen
00314898 Trio84 PubMed: Zhu 2015 - M - United States - - - - - ? Pierpont syndrome-like phenotype, absent speech, plantar fat pads, dysphagia, microcephaly, developmental delay, short stature, severe eczema. 2 1 Johan den Dunnen
00324474 - - - F - - - - - - - ? Microcephaly (HP:0000252); Hypertonia (HP:0001276); Failure to thrive (HP:0001508); Patent ductus arteriosus (HP:0001643); Patent foramen ovale (HP:0001655); Short stature (HP:0004322) 1 1 IMGAG
00379788 - - - F - - - - - - - ? Macrocephaly (HP:0000256); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Joint hypermobility (HP:0001382); Prominent forehead (HP:0011220) 1 1 IMGAG
00381536 184171 - - M no Germany - - - - - MRD7 Abnormal cry, High-pitched cry, Microcephaly, High palate, Thin vermilion border, Abnormal lip morphology, Retrognathia, Failure to thrive, Decreased body weight, Retinal dysplasia, Abnormal retinal morphology, Global developmental delay 1 1 Andreas Laner
00390083 184171 - - M no Germany - - - - - MRD7 Abnormal cry, High-pitched cry, Microcephaly, High palate, Thin vermilion border, Abnormal lip morphology, Retrognathia, Failure to thrive, Decreased body weight, Retinal dysplasia, Abnormal retinal morphology, Global developmental delay 1 1 Andreas Laner
00416379 194756 - - M no - - - - - - MRD7 Neurodevelopmental delay, Delayed CNS myelination, Cataract, Microcephaly 1 1 Andreas Laner
00416851 23 PubMed: Rump 2016 - M - - - - - - - MRD7 brain magnetic resonance imaging: wide peripheral liquor spaces; additional clinical featureslow birth weight, brachycephaly, hypertonia, severe developmental delay (consanguineous parents) 1 1 LOVD
00419585 20010 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00433660 - - - - - - - - - - - MRD7 moderate intellectual disability 1 1 Marketa Wayhelova
00435334 263288 - - M no Germany - - - - - MRD7 Global developmental delay, Delayed speech and language development, Motor delay, Failure to thrive, Abnormal aortic arch morphology 1 1 Andreas Laner
00440355 Pat39;PED1343.1 PubMed: Thevenon 2016, PubMed: Nambot 2018 - F - France - - - - - NDD epilepsy 1 1 Johan den Dunnen
00440387 PED2740.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00440398 PED3368.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00448214 Pat113 PubMed: Poli 2024 - F - Chile - - - - - ? intellectual disability; absent speech; autism spectrum disorder; short stature; sacral dimple; dysmorphic facial features 1 1 Johan den Dunnen
00453460 303605 - - M no Germany - - - - - MRD7 Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Microcephaly, Neurodevelopmental delay, Motor delay, Delayed speech and language development 1 1 Andreas Laner
00460017 - - - M - - (not applicable) white - - - - DD HP:0000023, HP:0000252, HP:0000277, HP:0000358, HP:0000954, HP:0001276, HP:0001508, HP:0001537, HP:0004322, HP:0007766, HP:0009118, HP:0009748, HP:0012758 1 1 Marketa Wayhelova
00460018 patient PubMed: van Bon 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - ID see paper; ..., birth length 48cm (−2SD), weight 3195g (−1SD), OFC 33cm (<−2SD); severe intellectual disability; intra-uterine growth retardation; febrile seizures; limited spacial skills, no speech; primary microcephaly; slender posture; neonatal feeding problems; no periods hyperextension neck; bitemporal narrowing; large/simple ear, deep-set eyes, pointed nose, no micrognathia; breast aplasia; no scoliosis/kyphosis, no pectus excavatum; MRI brain mild atrophy, no structural changes; no inguinal hernia; no cardiac defect; no short distal phalanges 1 1 Johan den Dunnen
00460019 Pat2 PubMed: Moller 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - microcephaly see paper; ..., severe intellectual disability; intra-uterine growth retardation; febrile seizures; primary microcephaly; slender posture; neonatal feeding problems; periods hyperextension neck; no bitemporal narrowing; large/simple ear, no deep-set eyes, pointed nose, micrognathia; scoliosis/kyphosis/pectus excavatum; cardiac defect; short distal phalanges 1 1 Johan den Dunnen
00460021 Pat1 PubMed: Moller 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Denmark - - - - - microcephaly see paper; ..., mild intellectual disability; intra-uterine growth retardation; febrile seizures; limited spacial skills, no speech; primary microcephaly; no slender posture; neonatal feeding problems; periods hyperextension neck; no bitemporal narrowing; large/simple ear, deep-set eyes, no pointed nose, micrognathia; no scoliosis/kyphosis, no pectus excavatum; MRI brain corpus callosum hypoplasia; inguinal hernia; no cardiac defect; no short distal phalanges 1 1 Johan den Dunnen
00460022 PatD12 PubMed: Courcet 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - ID see paper; ..., intrauterine growth retardation; birth length -4SD, weight -2SD, OFC -4SD); 1m-feeding difficulties; gastro-oesophageal reflux; 18m-febrile seizures, myoclonic type; atonic seizures, 3y- tonic-clonic generalised seizures; episodes of vomiting, anorexia and dehydration; 14y- ID, severe microcephaly (length -2SD, weight -2SD, OFC -6SD), severe speech delay (few words), facial dysmorphism (thick lower lip, mild hypotelorism, hypoplastic ear lobes); evidence hand stereotypies 1 1 Johan den Dunnen
00460023 PatM66 PubMed: Courcet 2012 - - - France - - - - - ? - 1 1 Johan den Dunnen
00460024 patients PubMed: Courcet 2012 - - - France - - - - - ID - 1 1 Johan den Dunnen
00460025 patients PubMed: Courcet 2012 - - - France - - - - - ID - 1 1 Johan den Dunnen
00460026 patients PubMed: Courcet 2012 - - - France - - - - - ID - 1 1 Johan den Dunnen
00460027 patients PubMed: Courcet 2012 - - - France - - - - - ID - 1 1 Johan den Dunnen
00466171 - - - F - Brazil - - - - - ? intellectual disability, microcephaly, congenital heart defect 1 1 Juliana Mazzeu
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