All individuals with variants in gene ZNF526

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00225675 25558065-Fam12DG0685 PubMed: Alazami 2015, Journal: Alazami 2015 - - yes Saudi Arabia - - - - - ? see paper; …, intellectual disability, Noonan-like facies, and pulmonary stenosis 1 1 Johan den Dunnen
00361546 12DG0532 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID syndromic; intellectual disability, dysmorphism, and pulmonary stenosis 1 1 Johan den Dunnen
00403685 Fam1Pat1 PubMed: Dentici 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Italy - - - - - NDD birth 39w, weight 2700g (SD-2.7), length 48cm (SD-0.7), OFC 30.5cm (SD-2.9); 22m weight 8.5kg (SD-3), length 75cm (SD-2.6), OFC 39.5cm (SD-5.5); microcephaly, sloping forehead, upslanting palpebral fissures, high nasal bridge, large ears, thin upper lip, pointed chin; no hearing loss; no congenital heart defect; ocular cataracts; profound psychomotor developmental delay; 37m-head control intermittent; not sitting; not walking; no speech; severe developmental delay/intellectual disability; hypertonic–dystonic movements; hypertonia; axial hypotonia; no nystagmus; no stereotypies; no abnormal behaviour; myoclonic seizures; EEG diffuse slow waves and epileptic discharges; 2y-MRI-brain simplified gyration, thin and arched corpus callosum mainly in the posterior sections, mild hypomyelination 1 1 Johan den Dunnen
00403686 Fam2Pat2 PubMed: Dentici 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Canada French Canadian;Europe-N - - - - NDD birth 41w, 5dweight 3700g (SD+1), length 50cm (SD+1.9), OGC32.5cm (SD-2); 17m weight 11.8kg (SD11–50th), length 79.5cm (SD3rd), OFC 40cm (SD−4) 33m-unchanged (SD−8); microcephaly, sloping forehead, large ears with fleshy lobules; no hearing loss; no congenital heart defect; ocular cataracts; profound psychomotor developmental delay; 18m-head control intermittent; not sitting; 33m-walk with walker; no speech; severe developmental delay/intellectual disability; cerebral visual impairment; hypotonic with brisk reflexes; hypertonia; axial hypotonia; no nystagmus; no stereotypies; no abnormal behaviour; infantile spasms, evolving into generalised tonic–clonic, tonic and startle seizures. Refractory to medication and ketogenic diet; EEG hypsarrhythmia; 7m-MRI-brain moderate dilation of the extra-axial CSF space and supratentorial ventricular system, reduction of the bulk of white matter and delayed myelination 1 1 Johan den Dunnen
00403687 Fam3Pat3 PubMed: Dentici 2022 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Syria - - - - - NDD birth weight 2200g; 4y weight 29.5kg (SD+1), OFC 44.7cm (SD-6); microcephaly, sloping forehead, hypertelorism, upslanting palpebral fissures, large ears; hearing loss, abnormal auditory evoked potentials; no congenital heart defect; ocular cataracts, clinically blind; profound psychomotor developmental delay; 3y-no head control; not sitting; not walking; no speech; severe developmental delay/intellectual disability; dystonic tetraparesis; initially truncal hypotonia; hypertonia; axial hypotonia; no nystagmus;  ; difficult social contact; epileptic spasms during first year of life, myoclonic and tonic seizures; 27m-MRI-brain diffuse lobar hypoplasia, thin grey matter and simplified gyration, large ventricles, preserved U-fibres, delayed myelination, reduction of the bulk white matter, thin corpus callosum, hypoplastic cerebral peduncles 1 2 Johan den Dunnen
00403688 Fam3Pat4 PubMed: Dentici 2022 sister F yes Syria - 5y - - - NDD 5y-deceased; 4y weight 16.7kg (SD0.5), length 113cm (SD0), OFC 39cm (SD-8); microcephaly, sloping forehead, upslanting palpebral fissures, large ears; hearing loss; no congenital heart defect; ocular cataracts; profound psychomotor developmental delay; 2y-head control intermittent; not sitting; not walking; no speech; severe developmental delay/intellectual disability; dystonic tetraparesis; hypertonia; axial hypotonia; no nystagmus;  ; epileptic spasms during first year of life, myoclonic seizures evolving to generalised, refractory to therapy; 32m-MRI-brain diffuse lobar hypoplasia, simplified gyration, especially frontal, abnormal shape of hippocampi bilaterally, incomplete corpus callosum, dilated ventricles especially frontal; central precocious puberty (Tanner P3 at 5 years), accelerated bone age 1 1 Johan den Dunnen
00403689 Fam4Pat5 PubMed: Dentici 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Algeria - - - - - NDD birth 40w, weight 3955g (SD+1.15), length 50cm (SD+0.20), OFC 35cm (SD+0.11); 6y weight 20kg (SD+0.5), length 97cm (SD-1.5), OFC 48cm (SD-2); microcephaly, large mouth, small widely spaced teeth; no hearing loss; no congenital heart defect; ocular cataracts, hyperopia, astigmatism; severe psychomotor developmental delay; head control normal; 16m-sit; 29m-walk; severe speech delay; severe developmental delay/intellectual disability;  ; no hypertonia; axial hypotonia; no nystagmus; stereotypies; restless, communication disorders, intolerance to frustration; no epilepsy; 17m-MRI brain normal 1 1 Johan den Dunnen
00457342 - - - F - China Chinese - - - - DENNED - 2 1 Min Peng
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.