All individuals with variants in gene YWHAZ

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00373789 iw182 - - M no China Chinese - - - - ? HP:0000035; HP:0000054; HP:0001249; HP:0430023; HP:0002500; HP:3000040; HP:0012768; HP:0000750; HP:0002194 1 2 Wenjuan Qiu
00373790 iw185 - - M no China Chinese - - - - ? HP:0004324; HP:0001249; HP:0000238; HP:0012768; HP:0025336; HP:0032989 1 2 Wenjuan Qiu
00375003 Pat1 PubMed: Popov 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? born 33w, FTT, GE reflux, G-tube, otitis media with myringotomy tube, hypogammoglobinemia and lymphopenia, hyperkeratosis pilaris, dry skin; short stature, <5%ile; weight <5%ile; developmental delay; motor delay, walk-4y; almost no speech; autistic-like behavior, self-injurious behavior, irritability; ptosis, proptosis with long philtrum, thick lips, high forehead, triangular facies, coarse/curly hair, sparse eyebrows; mild scoliosis; congenital mild pulmonic stenosis; seizures; negative panels for RASopathies 1 1 Johan den Dunnen
00375004 Pat2 PubMed: Popov 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? feeding difficulties, hyperventilation when anxious; OFC normal; short stature; low weight; developmental delay; motor delay; almost no speech; triangular face, mild ptosis; 10-11y-seizures; negative RASopathy panel 1 1 Johan den Dunnen
00375005 Pat3 PubMed: Popov 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? height -1 SD; weight +2.5 SD; developmental delay; mild motor delay; intellectual disability; ; <14y-generalized tonic-clonic epilepsy 1 1 Johan den Dunnen
00375006 Pat4 PubMed: Popov 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? short fifth digits, sleep issues; height +1 SD; developmental delay; motor delay; intellectual disability (IQ 55); speechdelay, language delay; obsessive, no concentration, fear, difficulty in making contact; abundant hair, coarse facial features, frontal bossing; no cardiac anomalies 1 1 Johan den Dunnen
00375007 Pat5 PubMed: Popov 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? birth 30w due to non-immune hydrops fetalis and HELLP in mother; retinopathy and cataracts; OFC <-2.5 SD; height 0 SD; developmental delay; almost no speech; autism, behavioral problems, sleep issues; ; no cardiac anomalies 1 1 Johan den Dunnen
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