All individuals with variants in gene NAGA

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00293138 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 185 Mohammed Faruq
00293139 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 18 Mohammed Faruq
00293140 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00303360 Pat11 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., during pregnancy placenta praevia and bleeding; 27w-ruptured placenta leading to emergency caesarean section delivery; birth 27w; intellectual disability; developmental delay; motor delay; speech delay; no epilepsy; EEG occasional theta slowing in L and R temporal, and posterior quadrants, at times with occasional diffuse theta slowing with an occipital predominance suggesting presence of diffuse and focal cortical dysfunction with encephalopathy, EEG normal apparent interictal discharges, events of concern were captured and were found to be nonepileptic in nature; hypotonia, low to normal muscle tone; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; 0.8y MRI brain mild bifrontal white matter volume loss with mild prominence of frontal horns and bodies of both lateral ventricles, mild symmetric prominence of subarachnoid fluid over frontal convexities and along anterior interhemispheric fissure; no regression; no other neurological abnormalities; tall prominent forehead, medial eyebrow flare, bulbous nasal tip, deep, short philtrum, prominent chin, small widely spaced teeth; small widely spaced teeth; no drooling, dysphagia; no hearing abnormalities; retinopathy of premature, resolved, currently pseudoesotropia and hyperopia; resolved patent ductus arteriosus; no skeletal abnormalities, no limb abnormalities; G-tube present. h/o of reflux and constipation; no urogenital abnormalities; no endocrine/metabolic abnormalities; preauricular tags, lrft forehead vascular lesion; no neoplasms 1 1 Johan den Dunnen
00304907 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00418515 Fam12 PubMed: He 2022 - - - China - - - - - ? - 1 1 Johan den Dunnen
00427736 D8 PubMed: Palmer 2022 family, 1 affected M - Canada France;white - - - - NDD see paper; ..., intellectual disability; mother has intellectual disability and epilepsy, 3 maternal uncles and one maternal cousin with epilepsy; normal hearing; normal vision; delayed speech, expressive language delay; 6y-opposition defiant disorder; 6y-onset seizures, 6y-absence seizures, subsequently focal seizures, occasionally focal secondarily generalised seizures; EEG 2 episodes of spike-wave discharges associated with blinking, suggestive of a seizure, generalized nonspecific cerebral dysfunction; weight 50th-75th centile; OFC 75th centile; no dysmorphic feturres; no gastrointestinal symptoms; varus deformity of feed 1 1 Johan den Dunnen
00438598 HSC0049 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 2 1 Johan den Dunnen
00448090 Pat23 PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - NDD (mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics 1 1 Johan den Dunnen
00456254 Pat32 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - ? see paper; ... 1 1 Johan den Dunnen
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