All individuals with variants in gene CLCN3

14 entries on 1 page. Showing entries 1 - 14.
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00466474 patient - - M no Spain white - - - - NEDHYBA dysmorphic facial features nonspecific, macrocephaly, hypotonia, global develoment delay; cerebral MRI not performed 1 1 Maria Elena García Paya
00467815 Pat1 PubMed: Duncan 2021 2-generation family, 1 affected, unaffected non-carrier parents F yes Netherlands Tyrkey - - - - NDD see paper; ..., birth-40w; no failure to thrive; feeding problems; delayed speech; delayed gross motor development, walks independently; delayed fine motor development; mild-moderate intellectual disability (IQ55); no seizures; autism; no hypotonia; temper tantrums since puberty; no eye anomalies; no hearing impairment; dysmorphic features 1 1 Johan den Dunnen
00467816 Pat2 PubMed: Duncan 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States Europe - - - - NDD see paper; ..., birth-39w; no failure to thrive; feeding problems; no speech; delayed gross motor development, 6y-walk; delayed fine motor development; severe intellectual disability (QS24); 29m-onset tonic clonic seizures; severe hypotonia; N; unilateral strabismus; no hearing impairment; dysmorphic features 1 1 Johan den Dunnen
00467817 Pat3 PubMed: Duncan 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States Europe - - - - NDD see paper; ..., birth-39w+3; failure to thrive; feeding problems; no speech; delayed gross motor development, does not walk independently; delayed fine motor development; severe intellectual disability; 4y-onset myoclonic seizures, controlled by clobazam + oxcarbazepine; no autism; moderate hypotonia; normal behavior; bilateral partial optic atrophy, retinal dystrophy, nystagmus; no hearing impairment; no dysmorphic features; crytorchdism 1 1 Johan den Dunnen
00467818 Pat4 PubMed: Duncan 2021 adopted child F - United States Europe - - - - NDD see paper; ..., ; no failure to thrive; feeding problems; delayed speech; delayed gross motor development, walks independently; delayed fine motor development; mild intellectual disability (IQ71); no seizures; autism; mild hypotonia; hyperactive, OCD, anxiety, stereotypies; strabismus; unilateral hearing impairment due to hx of cholesteatoma; dysmorphic features; possible hydrocephalus at birth 1 1 Johan den Dunnen
00467819 Pat5 PubMed: Duncan 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States Metis;Europe - - - - NDD see paper; ..., birth-41w+3; no failure to thrive; feeding problems; delayed speech; delayedgross motor development, walks independently with difficulty and AFOs; delayed fine motor development; global developmental delay; non-clinical seizures; no autism; moderate hypotonia; self- stimulatory actions when younger; strabismus, intermittent right exotropia; no hearing impairment; dysmorphic features 1 1 Johan den Dunnen
00467820 Pat6 PubMed: Duncan 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States Europe - - - - NDD see paper; ..., birth-41w+2; failure to thrive; feeding problems; delayedspeech, 3y-regression; delayedgross motor development, walks independently; delayed fine motor development; profound intellectual disability; no seizures; autism; mild hypotonia; severe anxiety, self-injurious, intermittent explosive behavior; strabismus, hyperopia; mild sensorineural hearing loss; dysmorphic features 1 1 Johan den Dunnen
00467821 Pat7 PubMed: Duncan 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States jew-Ashkenazi - - - - NDD see paper; ..., birth-40w; no failure to thrive; no feeding problems; delayed speech; delayedgross motor development, walks independently; delayed fine motor development; mild-moderate intellectual disability; no seizures; no autism; moderate hypotonia; severe anxiety; anisometropia; no hearing impairment; dysmorphic features 1 1 Johan den Dunnen
00467822 Pat8 PubMed: Duncan 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - NDD see paper; ..., birth-39w6; 23d-deceased; failure to thrive; feeding problems; no seizures; no hypotonia; dysmorphic features; arthrogryposis multiplex congenita, hip dislocation 1 1 Johan den Dunnen
00467823 Pat9 PubMed: Duncan 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Uruguay - - - - - NDD see paper; ..., birth-39w; failure to thrive; feeding problems; no speech; delayed gross motor development, sits supported, no craw, not walking; delayed fine motor development; severe intellectual disability; 6m-onset seizures, well controlled with Keppra; no autism; truncal hypotonia, nuchal hypotonia; normal behavior; esotropia; no hearing impairment; dysmorphic features; atrial septal defect, bilateral talipes equinovarus, bilateral renal pyelectasis, bilateral hand contractures, congenital radial head dislocation, hypoplastic/absent coccyx 1 1 Johan den Dunnen
00467824 Pat10.1 PubMed: Duncan 2021 2-generation family, 2 affected brothers, unaffected non-carrier parents M - Germany - - - - - NDD see paper; ..., birth-40w; no failure to thrive; no feeding problems; no speech; delayed gross motor development, does not walk independently; delayed fine motor development; global developmental delay; neonatal onset focal seizure, 3m-onset multifocal tonic seizures, myoclonic seizures; no autism; no hypotonia; severe restlessness; salt and pepper fundus pigmentation, nystagmus, no fixation; no hearing impairment; dysmorphic features 1 2 Johan den Dunnen
00467825 Pat10.2 PubMed: Duncan 2021 brother M - Germany - - - - - NDD see paper; ..., birth-40w; 14m-deceased; no failure to thrive; feeding problems; no speech; delayed gross motor development, never walked independently; delayed fine motor development; global developmental delay; 3m-onset tonic seizures, myoclonic seizures; autism; no hypotonia, severe spasticity; normal behavior; salt and pepper fundus pigmentation, nystagmus, no fixation; no hearing impairment; dysmorphic features 1 1 Johan den Dunnen
00467826 Pat1 PubMed: Nakashima 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - - - - NDD see paper; ..., 13wg-increased nuchal translucency, hypoplastic nasal bone; 25wg ventricular dilatation, callosal hypogenesis; 40wg-birth; MRI brain 19m-insular polymicrogyria, total agenesis corpus callosum, hypoplastic pons; optic nerve coloboma, visual impairment; 8m-focal seizures showing right hemibody tonic-clonic seizure; 10m-epileptic spasms in clusters; dysmorphism (prominent forehead, hypertelorism, epicanthus, upslanting palpebral fissure, tented upper lip vermilion, short neck) 1 1 Johan den Dunnen
00467827 Pat2 PubMed: Nakashima 2023 2-generation family, 1 affected, unaffected non-carrier parents M no United States white - - - - NDD see paper; ..., 29wg-placental abruption; 40wg-birth, required breathing assistance; 3d-MRI brain diffuse polymicrogyria, total agenesis corpus callosum, large frontal horns, hypoplastic pons, hypoplastic cerebellum, markedly decreased white matter volume, delayed myelination; 9m-optic nerve hypoplasia, coloboma; mild ptosis left eye, horizontal nystagmus, rotary nystagmus; laryngomalacia, mild choanal ; severe developmental delay, intellectual disability, severe hypotonia, poor sucking, poor swallowing reflexes; 17y-coo, smile, no speech/babble, never stand/walked 1 1 Johan den Dunnen
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