All individuals with variants in gene WDR47

9 entries on 1 page. Showing entries 1 - 9.
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     
00443775 Pat532;Pat15 PubMed: Imafidon 2021, PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - 00y11m - - - ? see paper; ..., 11m-deceased; developmental and epileptic encephalopathy, early infantile developmental and epileptic encephalopathy; 3m:-tonic-clonic seizure; epileptic spasm, myoclonic seizure; 1d-hypotonia, global developmental delay, 4m-regression; profound developmental delay; MRI brain 9d-normal, 3-delayed myelination, mild cerebral atrophy 1 1 Johan den Dunnen
00444098 Fam3PatII2 2-generation family, affected fetus/boy, unaffected heterozygous carrier parents PubMed: Bayam 2024 M yes Saudi Arabia Arab - - - - ? see paper; ..., pregnancy unremarkable; birth term, C-section, weight 3.09kg, length 52cm, OFC 34cm (-0.9 SD); weight 10.5kg (-2.98 SD), length 92cm (-1.32 SD), OFC 44cm (-3.7 SD); global developmental delay; not walking; no clear words; MRI brain 1y-widening bilateral ventricles, basal cisterns and cereberal cortical sulci suggestive of global brain volume loss, periventricular abnormal high signal intensity FLAIR, T1 and T2-weighted images suggestive of periventricular leukomalacia, bbrain appears small in size (microcephaly), corpus callosum very thin; EEG slow background activity, generalized and predominantly anterior spikes of epileptic discharge; no coordination; initial infantile hypotonia progressed to hypertonia/spasticity; hyperreflexia; not able to stand or walk; normal sensory; profound intellectual disability; myoclonic seizures then mixed seizures; persistent head lag, abnormality of ocular smooth pursuit; hypertelorism, medial flaring eye browes, thick upper and lower lips, elevated ear lobules, low auricle; flexion deformity at both ankles/wrists; no anomalies digestive organs; no hert defects; mild hydronephrotic changes in infantile period with normal renal biochemical function; older sibling 6y-deceased, severe neurodevelopmental disease, seizures 1 1 Zafer Yuksel
00444146 - - - M no Japan - - - - - NDD HP:0002079, HP:0000252, HP:0000271, HP:0001249, HP:0001250 2 1 Mitsuko Nakashima
00459416 Fam1PatII3 PubMed: Bayam 2024 3-generation family, 3 affected, unaffected heterozygous carrier parents, older sister (PatII1) 7d-deceased M yes Sudan - 1d - - - NDD see paper; ..., 1d-deceased; birth 37w, elective C-section, weight 2.5kg, OFC 32cm (-1 SD); MRI brain agenesis corpus callosum, microcephaly, pontocerebellar hypoplasia, dilated ventricular system, simplified gyral pattern; hyperreflexia; seizures 20-gw intrauterine, 1d myoclonic convulsions immediately after birth; no obvious facial dysmorphism 1 1 Johan den Dunnen
00459417 Fam1PatII4 PubMed: Bayam 2024 brother M yes Sudan - 2d - - - NDD see paper; ..., 2d-deceased; birth 36w, elective C-section, weight 2.3kg, OFC 32cm (-1 SD); MRI brain agenesis corpus callosum, microcephaly, pontocerebellar hypoplasia, dilated ventricular system, simplified gyral pattern; hyperreflexia; seizures 20-gw intrauterine, 1d myoclonic convulsions immediately after birth; no obvious facial dysmorphism 1 1 Johan den Dunnen
00459418 Fam2PatII3 PubMed: Bayam 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - NDD see paper; ..., fetal movements weakened 1w before delivery, normal delivery; birth 38w6d, no asphyxia, apgar 8. Unable to breastfeed until 2w, infused with milk, weight 2.77kg, length 49cm, OFC 31.5cm (-1.1 SD); weight 11.8kg (-3.1 SD), length 123cm (-3.4 SD), OFC 45cm (-5.9 SD); profound global developmental delay; bedridden; speech no meaningful words; growth failure, recurrent vomiting neonatal period; CT scan 8d-transient epidural hematoma,12y-abnormality; MRI brain 9y9m-bilateral periventricular nodular heterotopia, microcephaly, enlargement lateral ventricles, corpus callosum hypoplasia; EEG 14y-sporadic focal waves focal at F4; bradykinesia; hypotonia; no hyperreflexia; ataxia slightly recognized in sitting position; profound intellectual disability; 11y-status epilepticus seizures due to acute encephalopathy; poor eye contact, hypersensitivity on face/limbs; ocular pursuit (+), normal tendon reflex, no abnormal reflex; widely spaced eyes, epicanthus, tented upper lip, short philtrum; pes varus, mild ankle joint contracture; small appetite, frequent vomiting due to gastroesophageal reflux; no hert defects; right testis elevated, remained in abdominal cavity 2 1 Johan den Dunnen
00459419 Fam4PatII1 PubMed: Bayam 2024 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Italy Cilento - - - - NDD see paperp; C-section due to failure dilatation uterine cervix; birth 40w, elective C-section, weight 3.52kg, length 52cm, OFC 35cm; weight 8,6kg (-1 SD), length 78cm (+1.5 SD), OFC 42.9cm (-2.69 SD); profound global development delay; bedridden; speech global hyporeactivity; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects 1 1 Johan den Dunnen
00459420 Fam4PatII3 PubMed: Bayam 2024 sister F yes Italy Cilento - - - - NDD see paper; ..., pregnancy unremarkable; birth 40w, elective C-section, weight 3.35kg, length 51cm, OFC 35cm; weight 5kg (-1 SD), length 70cm (+1 SD), OFC 40cm (-1.93 SD); profound global development dela; bedridden; speech no meaningful words; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects 1 1 Johan den Dunnen
00459421 Fam5PatII1 PubMed: Bayam 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Brazil Minas Gerais - - - - NDD see paper; ..., gestational diabetes 3rd trimester (dietary treatment), normal fetal movements, 4m-gestational ultrassound ventriculomegaly; birth 39w, C-section, weight 3.02kg, length 50.8cm, OFC 33cm; weight 14.2kg (+0.54 SD), length 94cm (+0.85 SD), OFC 46.5cm (-1.73 SD); global developmental delay, only sustains neck; no sit, no walk; no speech, only sounds; prenatal ventriculomegaly; MRI brain head circumference, reduced white matter, hypoplastic corpus callosum and reduced brainstem volume, ventriculomegaly without hydrocephalus, Inspecific hypersignal areas white matter; EEG hypsarrhythmia, disorganized baseline activity, frequent multifocal epileptiform paroxysms with variable morphology; coordination poor; axial hypotonia, apendicular hypertonia; no hyperreflexia; no ataxia; global developmental delay; epileptic crisis initially diagnosed at 3/4m of age, refractory seizures; suspicion of dystonia; significant feeding difficulty first few months of life, 5m-fundoplication surgery and gastrostomy with adequate weight gain since; normal cardiologic evaluation; significant strabismus, normal gastrourogenital tract, normal ocular fundoscopy, normal hearing screening tests 1 1 Johan den Dunnen
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.