All individuals with variants in gene KAT6A

18 entries on 1 page. Showing entries 1 - 18.
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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     
00081075 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - ARTHS;MRD32 Mental retardation, autosomal dominant 32 (OMIM:616268) 1 1 Daniel Trujillano
00245890 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Patent ductus arteriosus (HP:0001643); Hashimoto thyroiditis (HP:0000872); Dysmenorrhea (HP:0100607); Hypogonadism (HP:0000135); Growth hormone deficiency (HP:0000824); Short stature (HP:0004322); Hypercholesterolemia (HP:0003124); Osteoporosis (HP:0000939); Increased body weight (HP:0004324) 1 1 IMGAG
00269873 - - - F - - - - - - - ? Specific learning disability (HP:0001328) 1 1 IMGAG
00275870 Pat10 PubMed: Eising 2018 analysis 19 individuals with childhood apraxia of speech M - - - - - - - SPCH childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores <85; no gross or fine motor impairment; oral nonverbal motor impairment; dysarthria 1 1 Johan den Dunnen
00276038 - - - F - - - - - - - ? Microcephaly (HP:0000252); Global developmental delay (HP:0001263); Hyperopic astigmatism (HP:0000484); Broad nasal tip (HP:0000455) 1 1 IMGAG
00276043 - - - M - - - - - - - ? Intellectual disability, mild (HP:0001256); Expressive language delay (HP:0002474); Strabismus (HP:0000486); Brachycephaly (HP:0000248) 1 1 IMGAG
00300313 - - - F - (Germany) - - - - - ? Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Plagiocephaly (HP:0001357); Cognitive impairment (HP:0100543) 1 1 IMGAG
00301267 - PubMed: Minardi 2020 - F - Italy - - - - - EIEE - 2 1 Francesca Bisulli
00308026 Pat5 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - ? severe global developmental delay, short stature, dysmorphism 1 1 Johan den Dunnen
00383156 Case #1 - - F no Italy - - - - - ARTHS;MRD32 - 1 1 Vincenzo Nigro
00383157 - Case #2 - F no Italy - - - - - ARTHS;MRD32 - 1 1 Vincenzo Nigro
00390056 Pat3 PubMed: Kritioti 2021 - F - Cyprus Greece - - - - ? global developmental delay, failure to thrive, static leukoencephalopathy, microcephaly, pinched nose, bifid first molar, unilateral blepharoptosis 1 1 Johan den Dunnen
00408111 194485 - - M ? Germany - - - - - ARTHS;MRD32 - 1 1 Andreas Laner
00434647 patient PubMed: Yi 2022 2-generation family, 1 affected, unaffected non carrier parents F - China - - - - - CSS see paper; ..., feeding difficulty, dysphagia, vomiting, hypotonia, delayed mental development 1 1 Johan den Dunnen
00438653 HSJ0348 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00448179 Pat17 PubMed: Poli 2024 - F - Chile - - - - - ? intellectual disability; autism spectrum disorder; microcephaly; strabismus; gastroesophageal reflux; limb anomalies 1 1 Johan den Dunnen
00448515 286848 - - M no Germany - - - - - ARTHS;MRD32 Global developmental delay, Delayed speech and language development, Esodeviation 1 1 Andreas Laner
00452749 - - - F - - (not applicable) - - - - - ? HP:0004322, HP:0001956, HP:0002342, HP:0000589, HP:0000786, HP:0012521, HP:0000957 1 1 Marketa Wayhelova
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