All individuals with variants in gene ZNRF3

12 entries on 1 page. Showing entries 1 - 12.
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00453561 Pat1 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., microcephaly; no intellectual disability; mild speech delay; no hypotonia; no seizures; no motor problems; coarctation of the aorta, hypoplastic aortic arch, bicuspid aortic valve,ventricular septal defect, atrial septal defect, persistent left superior vena cava; ectodermal dysplasia (nail hypoplasia, lacrimal duct obstruction, oligodontia), hyperopia 1 1 Johan den Dunnen
00453562 Pat2 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., macrocephaly; moderate intellectual disability; speech delay; no hypotonia; no seizures; no motor problems; no heart problems 1 1 Johan den Dunnen
00453563 Pat3 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., macrocephaly; no intellectual disability; speech delay; no hypotonia; no seizures; no motor problems; no heart problems; sandal gap 1 1 Johan den Dunnen
00453564 Pat4 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., macrocephaly with megalencephaly, periventricular heterotopia and polymicrogyria in MRI; no intellectual disability; speech delay, 3y-first words; no hypotonia; focal epilepsy; no motor problems; no heart defect, ECG RBBB; cafe-au-lait spot, anxiety, sensorineural (left) hearing impairment 1 1 Johan den Dunnen
00453565 Pat5 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., macrocephaly, ventriculomegaly; motor delay; hypotonia; paroxysmal movements 1 1 Johan den Dunnen
00453566 Pat6 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., extreme macrocephaly; Chiari malformation with hydrocephalus (underwent a intradural Chiari decompression); learning difficulty; speech delay; no hypotonia; no seizures; no motor problems; ventricular septal defect that closed; choanal atresia 1 1 Johan den Dunnen
00453567 Pat7 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., borderline macrocephaly; moderate intellectual disability; unable to speak; hypotonia; Lennox-Gastaut syndrome; gait disturbance, unable to walk; no heart problems reported; kyphosis, abnormal behaviors, sleep disturbances, strabismus, recurrent infections 1 1 Johan den Dunnen
00453568 Pat8 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., microcephaly assumably caused by prenatal teratogens; profound developmental delay, speech delay; hypoglycemia seizures in early infancy; toe walk; mother heavy recreational drug user during early pregnancy: heroin, cannabis, cocaine, once realised she was pregnant, reduced drug use and only smoked cannabis, minimal alcohol ingestion 1 1 Johan den Dunnen
00453569 Pat9 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., intraventricular hemorrhage; hypotonia; no seizures; no motor problems; atrial ventricular defect, patent ductus arteriosus that has closed with ibuprofen; in ICU since birth, bilateral choanal atresia, severe intraventricular hemorrhage, fungal infection 1 1 Johan den Dunnen
00453570 FamPat10 PubMed: Boonsawat 2024 2-generation family, affected father/son M - - - - - - - NDD see paper; ..., no brain phneotype; no intellectual disability; no developmental delay; no hypotonia; no seizures; no motor problems; 5m-5y-slight cardiac ectasia; adrenal insufficiency; no neurodevelopmental findings, recurrent infections, low serum-carnitine that normalized spontaneously at 5y 1 2 Johan den Dunnen
00453571 FamPat11 PubMed: Boonsawat 2024 son M - - - - - - - NDD see paper; ..., no brain phneotype; no intellectual disability; no developmental delay; no hypotonia; no seizures; no motor problems; atrial septal defect; adrenal insufficiency, no neurodevelopmental findings, hypertension at birth 1 1 Johan den Dunnen
00453572 Pat12 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no brain phneotype; no intellectual disability; no developmental delay; no hypotonia; no seizures; no motor problems; no heart problems; nephrotic syndrome, recurrent infections 1 1 Johan den Dunnen
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