All individuals with variants in gene PPP2R5D

34 entries on 1 page. Showing entries 1 - 34.
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00019889 - PubMed: Gilissen 2014 - ? ? - - - - - - ID ID (dyshormonic profile; performal IQ 50, verbal 90), hypotonia, no facial dysmorphisms, progressive scoliosis, hip dysplasia, fatigue problems. 1 1 Marianne Vos (LOVD-team)
00050375 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? severe intellectual disability, hydrocephalus, chronic diarrhea, hypoglycemia 1 1 Johan den Dunnen
00050506 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, seizures, ventriculomegaly, narrow forehead, downslanted palpebral fissures, pyloric stenosis, narrow palate, generalized hypotonia, macrocephaly, ventriculomegaly 1 1 Johan den Dunnen
00050643 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, congenital muscular torticollis, congenital hip dislocation 1 1 Johan den Dunnen
00050675 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, deeply set eye, abnormality of vision, myopia, strabismus, generalized hypotonia 1 1 Johan den Dunnen
00080819 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - HJS1;MRD35 Mental retardation, autosomal dominant 35 (OMIM:616355) 1 1 Daniel Trujillano
00183068 Trio72 PubMed: de Ligt 2012 - M - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00306227 134 - - M - China - - - - - HJS1;MRD35 - 1 1 Sha Hong
00307963 15DG0837 PubMed: Anazi 2017 simplex case F - - - - - - - ID see paper; ..., Global developmental delay, Seizures, Macrocephaly, Prominent forehead, Generalized hypotonia, Downslanted palpebral fissures, Epicanthus, Anteverted nares, Cafe-au-lait spot 1 1 Johan den Dunnen
00319998 - - - M - - - - - - - ? Abnormally large globe (HP:0001090); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263) 1 1 IMGAG
00359336 163496 - - F - Hungary - - - - - HJS1;MRD35 exaggerated startle response, abnormality of movement 1 1 Andreas Laner
00427978 A029 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00440416 PED2604.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00450288 COG1674 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head; moderate intellectual disability; 1 1 Johan den Dunnen
00450289 COG1744 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; moderate intellectual disability; 1 1 Johan den Dunnen
00450290 COG0328 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; mild intellectual disability; 1 1 Johan den Dunnen
00455845 Pat85 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
00464343 - - - - - - - - - - - HJS1;MRD35 - 1 1 Min Peng
00464344 - - - - - - - - - - - HJS1;MRD35 - 1 1 Min Peng
00464472 COG1744 PubMed: Loveday 2015 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - OGS see paper; ..., birth weight 4300g (1.5SD), length 57cm (3SD), OFC 38.5cm (2.6SD); poor neonatal feeding; hypospadias meatus at glandular-shaft junction; 9m-delayed developmental milestones, poor head control, limited interaction; 3m-height 66cm (2.3SD), OFC 45.7cm (3.6SD), weight 7.65kg (1.8SD); telecanthus, long palpebral fissures, pencilled eyebrows, broad, high forehead, plagiocephaly, deep palma/plantar creases; intellectual disability 1 1 Johan den Dunnen
00464473 COG1674 PubMed: Loveday 2015 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - OGS see paper; ..., birth-36w; 20m-macrocephaly (OFC 54.5cm, 3.8SD), heigh 79.5cm (-1.4SD), weight 12.85kg (1.2SD); moderate intellectual disability; no dysmorphism, broad, tall forehead 1 1 Johan den Dunnen
00464474 COG0328 PubMed: Loveday 2015 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - OGS see paper; ..., birth at term, weight 3600g (0.4SD); hypotonia;delayed motor milestones, 15m-crawl, 2y-walk; 18m-OFC 52cm (3.4SD); 14y-height 173cm (2SD), OFC 60cm (3.8SD); mild intellectual disability; asymmetric resting tremor progressed to florid features of dopa responsive Parkinsonism 1 1 Johan den Dunnen
00464582 Pat1 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464583 Pat2 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464584 Pat3 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464585 Pat4 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464586 Pat5 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464587 Pat6 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464588 Pat7 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464589 Pat8 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ID see paper; ..., mild intellectual disability, mild developmental delay 1 1 Johan den Dunnen
00464590 Pat9 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ID see paper; ..., mild intellectual disability, mild developmental delay 1 1 Johan den Dunnen
00464591 Pat10 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ID see paper; ..., moderate intellectual disability, moderate developmental delay 1 1 Johan den Dunnen
00464592 Pat11 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ID see paper; ..., moderate intellectual disability, moderate developmental delay 1 1 Johan den Dunnen
00471301 IS-DYS-402 PubMed: Zech 2020 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - DYT isolated dystonia, coexisting non-movement disorder-related neurological symptoms; onset infancy (0-2y); generalized dystonia; no dystonic cerebral palsy 1 1 Johan den Dunnen
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