All individuals with variants in gene KAT5

4 entries on 1 page. Showing entries 1 - 4.
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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     
00307900 Pat1 Journal: Humbert 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - NDD see paper; ..., severe developmental delay, intellectual disabillity (FSIQ 40); ADHD, sleep disorder, disruptive behavior; seizures; partial agenesis corpus callosum; recurrent urinary tract infections; no congenital heart defect; no orofacial malformations; severe myopia; round face, flat facial profile, down-slanting corners mouth, depressed nasal bridge, prognathism, low-set ears, almond-shaped eyes 1 1 Johan den Dunnen
00307901 Pat2 Journal: Humbert 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - NDD see paper; ..., severe developmental delay, intellectual disabillity (IQ20-30); ADHD, severe sleep disorder, multiple stereotypies and disruptive behavior; seizures; corpus callosum dysgenesis, cerebellar atrophy; horseshoe kidney, vesico-ureteral reflux, cryptorchidism; no congenital heart defect; unilateral cleft lip and palate; strabismus, hypermetropia; lateral thinning of eyebrows, macrostomia, bulbous and asymmetric nose, thick lower lip, prominent chin 1 1 Johan den Dunnen
00307902 Pat3 Journal: Humbert 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States African-American - - - - NDD see paper; ..., microcephaly; severe global developmental delay; behavioral difficulties with tantrums and head banging; seizures; focal polymicrogyria, cerebellar atrophy; hypospadias, cryptorchidism; VSD, dysplastic pulmonary valve; submucous cleft palate; epiblepharon; round face, flat facial profile; down-slanting corners of mouth 1 1 Johan den Dunnen
00453429 - - - F - - (not applicable) white - - - - ? HP:0001734, HP:0100867, HP:0002566, HP:0000377, HP:0000122, HP:0001629 1 1 Marketa Wayhelova
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