All individuals with variants in gene RNU4-2

176 entries on 2 pages. Showing entries 1 - 100.
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00454851 Pat1 PubMed: Chen 2024 - M - United States white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature (resolved, 6y-starting growth hormone); microcephaly, congenital; severe global developmental delay; 7y-first steps, ambulatory in home for short distances, uses wheelchair out of home; no speech; intellectual disability; behavioral issues; self-biting of hand, aggressive behavior toward others when frustrated, self-hitting, pica, anxiety; hypotonia (mixed tone, trunk hypotonia, limb hypertonia); seizures; MRI brain abnormal, Arachnoid cyst, brain atrophy, pineal cyst, hypoplasia of the corpus callosum, periventricular heterotopia, bilateral ventriculomegaly 1 1 Johan den Dunnen
00454852 Pat2 PubMed: Chen 2024 - M - United States white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, aquired; moderate global developmental delay; 1-2y-walk; no speech; intellectual disability; no behavioral issues; Fixated on fans, cars Very happy kid Likes everything in his mouth (except food!); hypotonia (mild); seizures; MRI brain abnormal, thin corpus callosum, Abnormal cerebral white matter morphology At age ~3.5, small focus of hypointensity right frontal lobe on graident echo and associated with white matter hyperintensity on T2 and FLAIR. Likely calcification and gliosis; white matter volume loss predominantly in parietal and occipital lobes; thinning or corpus callosum In June 2018, thin corpus callosum; ventriculomegaly; diffuse parenchymal volume loss versus hypoplasia 1 1 Johan den Dunnen
00454853 Pat3 PubMed: Chen 2024 - M - United States white;Hispanic;jew-Ashkenazi;Italy;Colombia;Poland - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, congenital (32 cm at birth); severe global developmental delay; 3y-3y6m-walk, currently can ambulate short distances with an abnormal gait; no speech (predominantly, but is able to communicate with hands and non-specific sounds); intellectual disability; behavioral issues; hits himself and bites his hand when frustrated, when excited, jumps and flaps hands, very affectionate, likes to mouth/chew objects, likes music/water play, and is aversive to many textures and loud noises. Not particularly aggressive but can get easily frustrated. Exhibits repetitive behaviors such as hand flapping, rocking back and forth, and banging head. Has an aversion to bright lights (eyes have a tendency to roll back) and is very sensitive to loud sounds and to food textures. Night terrors; hypotonia; no seizures; MRI brain abnormal, 4m-oderate prominence of lateral ventricles, small corpus callosum, central white matter loss; cavum vellum interpositum cyst, large arachnoid granulation; 11m-prominance of lateral and third ventricles, possibe aqeuductal stenosis, thinning of corpus callosum, periventricular white matter again seen, UDN notes: Hypoplasia of corpus callosum and brainstem, ventriculomegaly, delayed myelination, white matter gliosis, small pituitary gland 1 1 Johan den Dunnen
00454854 Pat4 PubMed: Chen 2024 - M - United States Asia;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, aquired (noted at 9 months); severe global developmental delay; 3y6m-first steps, uses an adaptive stroller for long distances (tires easily); speech few words (but largely non-verbal); intellectual disability; behavioral issues; self-stimulation behavior: flapping, kicking legs, banging head; can be aggressive when frustrated; mouths objects; hypotonia; seizures; MRI brain abnormal, diffuse diminutive bilateral cerebreal hemispheric white matter volume, hypoplastic callosal rostrum, prominent partial thinning of the corpus callosum, nonspecific dysmorphic alteration of the milateral gyral pattern 1 1 Johan den Dunnen
00454855 Pat5 PubMed: Chen 2024 - F - United States white;Europe - - - - NDD see paper; ..., intra-uterine growth retardation; short stature; microcephaly, congenital; moderate-severe global developmental delay; 3y-walk, wide gait; no speech; intellectual disability; no behavioral issues; rocks, flaps arms, likes to clap hands; hypotonia (mixed tone, lower tone in upper extremities, higher tone in lower extremities); seizures; MRI brain abnormal, white matter loss - stable over time 1 1 Johan den Dunnen
00454856 Pat6 PubMed: Chen 2024 - F - Lebanon white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; non-ambulatory (walks with gait trainer and can take a few steps independently); no speech; intellectual disability; behavioral issues; Repetitive behaviors and hand stereotypies. No aggressive or self-injurious behaviors.; hypotonia; seizures; MRI brain abnormal, reduced white matter volume (predominantly affecting posterior white matter) and thin corpus callosum 1 1 Johan den Dunnen
00454857 Pat7 PubMed: Chen 2024 - M - Australia white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, congenital; severe global developmental delay; 4y-walk (right talipes requiring bar); speech few words (4y-single words); intellectual disability; no behavioral issues; self stimulatory behaviours,; hypotonia; no seizures; MRI brain normal 1 1 Johan den Dunnen
00454858 Pat8 PubMed: Chen 2024 - M - United States white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly (OFC borderline); global developmental delay; 3y6m-walk; no speech; intellectual disability; hypotonia; seizures; MRI brain abnormal, thinning of corpus callosum, partial empty sella, posterior pit bright spot not visualized 1 1 Johan den Dunnen
00454859 Pat9 PubMed: Chen 2024 - M - Australia white;Europe - - - - NDD see paper; ..., intra-uterine growth retardation; short stature; microcephaly, acquired (birth-OFC normal 35cm with progression); severe global developmental delay; 5y-walk, ataxic gait; no speech (8m-responded to name being called, 12m-babbleds); intellectual disability; behavioral issues; hitting now and more behavior; self-stimulation Affect generally appeared flatter than expected, as patient generally appeared to process slowly and required enhanced and elongated stimulation. Self injurious behavior and self stimulating behavior; hypotonia; seizures; MRI brain abnormal, findings are indicative of volume loss/atrophy. However correlation with head circumference, to exclude possible superimposed communicating hydrocephalus, is also advised.2. Opacified paranasal sinuses, tympanic cavities and mastoid air cells. Might be infectious/inflammatory in nature. Findings: The corpus callosum is small in size/atrophic in nature. The optic chiasm and nerves are also small in size. The brainstem is low normal in size. Age 3: Mild cerebral atrophy or volume loss is noted. Ventriculomegaly. Enlarged cerebral subarachnoid space. Hypoplasia of corpus callosum and brainstem. Pineal cyst 1 1 Johan den Dunnen
00454860 Pat10 PubMed: Chen 2024 - F - United States white - - - - NDD see paper; ..., intra-uterine growth retardation; short stature; microcephaly, congenital; global developmental delay (nonverbal expressive language with better receptive skills); 2y-walk; speech few words (2y-said "hi", but not consistent or repeated often, currently makes consonent sounds, but using them specifically, working with speech therapist); no behavioral issues; Challenges with differentiating between gentle and hard, thus has some hitting but not violent. Can be stubborn and strong willed.; hypotonia; seizures; MRI brain abnormal, heterotopias. Periventricular leukomalacia. Thin corpus callosum. Absent pituitary bright spot. 1 1 Johan den Dunnen
00454861 Pat11 PubMed: Chen 2024 - F - United States white;Asia - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; 2y-walk; no speech; no behavioral issues; hypotonia; no seizures; MRI brain abnormal, Microcephaly, with decreased cerebral volume, mild delay in myelination, corresponds to approximately 4-month-old stage (at 6 months). 1 1 Johan den Dunnen
00454862 Pat12 PubMed: Chen 2024 - F - - white - - - - NDD see paper; ..., no intra-uterine growth retardation; no short stature; no microcephaly; severe global developmental delay; non-ambulatory; no speech; intellectual disability, severe; no behavioral issues; hypotonia; seizures; MRI brain abnormal, hypoplasia of the corpus callosum, ventriculomegaly, decreased white matter 1 1 Johan den Dunnen
00454863 Pat13 PubMed: Chen 2024 - M - Ukraine;Romania - - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; severe global developmental delay; 4y-walking with aids; no speech; intellectual disability; behavioral issues; sensory issues, stereotypies, hand flapping; hypotonia; seizures; MRI brain abnormal, mild reduction in volume with mild prominence of the extra-axial spaces (3y) 1 1 Johan den Dunnen
00454864 Pat14 PubMed: Chen 2024 - M - - white;Asia;Anglo-Australia;Malaysia;China - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; 2y-walk; no speech; intellectual disability; behavioral issues; motor stereotypy - recurring hand movements. Sensory seeking behaviour.; hypotonia; no seizures; MRI brain abnormal, 8m-slight prominence of the temporal horns of lateral ventricles. Scan performed in Dubai and neither images or details of report accessible. 1 1 Johan den Dunnen
00454865 Pat15 PubMed: Chen 2024 - F - Australia white;Scotland;Cypriot-Turkey - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly; severe global developmental delay; 3y-walk; speech few words (but essentially non-verbal, communicates with gestures, pointing, PECS); intellectual disability, severe; behavioral issues; Some aggressive behaviours, sensory-seeking.; hypotonia; no seizures; MRI brain abnormal, delayed myelination of the subcortical U fibres at frontotemporal poles (WM intensities flair-RJL). Smaller left temporal lobe, thin corpus callosum, dysplastic left hypocampus 1 1 Johan den Dunnen
00454866 Pat16 PubMed: Chen 2024 - F - Australia white;Europe-N - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, acquired (birth 37w-normal 35cm with progression, 6y-<3rd centile); severe global developmental delay; 9m-sit, 2y6m-walk with broad based gait; no speech; intellectual disability; no behavioral issues; hypotonia (in infantile period); seizures; MRI brain abnormal, thin corpus callosum. Relatively dilated occipital horns. Loss of white matter. Abnormal signal in frontal parietal white matter. 1 1 Johan den Dunnen
00454867 Pat17 PubMed: Chen 2024 - M - Australia white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; no short stature; no microcephaly; severe global developmental delay; non-ambulatory; no speech; intellectual disability, severe; no behavioral issues; hypotonia; seizures; MRI brain abnormal, communicating hydrocephalus and global cerebral atrophy 1 1 Johan den Dunnen
00454868 Pat18 PubMed: Chen 2024 - M - Belgium;Greece white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature (-2 SD); microcephaly, congenital; severe global developmental delay; 2y-walk; speech few words (3 words); intellectual disability; behavioral issues; cheerful, sociable, loves music, has a sense of humour, stereotypical movements (hand flapping, chewing); hypotonia (axial); seizures; MRI brain abnormal, aspecific findings : Several hyperintense millimeter spots in FLAIR in the deep white matter near the lateral ventricles. Less than ten on the right and left at the age of 15 y 1 1 Johan den Dunnen
00454869 Pat19 PubMed: Chen 2024 - F - Syria - - - - - NDD see paper; ..., short stature; no microcephaly (borderline OFC); severe global developmental delay; not yet walking; no speech; intellectual disability (probable); hypotonia; seizures; MRI brain abnormal, brain atrophy with hypoplastic corpus callosum and enlarged ventricles 1 1 Johan den Dunnen
00454870 Pat20 PubMed: Chen 2024 - F - Australia white;Europe - - - - NDD see paper; ..., short stature; microcephaly, congenital; severe global developmental delay; intellectual disability; hypotonia 1 1 Johan den Dunnen
00454871 Pat21 PubMed: Chen 2024 - M - Pakistan - - - - - NDD see paper; ..., intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; not yet walking; speech few words (3y-first few single words); behavioral issues; Self-harming - repeatedly hits his mouth with his hand or anything he can find to pick up. This has damaged the dentition of his upper 2 incisors.; hypotonia (central); seizures; MRI brain abnormal, generalised decreased white matter in cerebral hemispheres, most prominent in occipital regions, thinning of corpus callosum, moderate ventriculomegaly, delayed myelination. MRS-NAD. 1 1 Johan den Dunnen
00454872 Pat22 PubMed: Chen 2024 - M - Germany white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; 22m-walk; no speech; intellectual disability; behavioral issues; seizures; MRI brain normal 1 1 Johan den Dunnen
00454873 Pat23 PubMed: Chen 2024 - F - - white - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; moderate-severe global developmental delay; 2y-walk, ongoing ataxic broad based gait and less mobile over last few years (used to run but less so now); no speech (did have a very small number of words by age 3 years but now non-verbal uses ipad communicaiton board and minimal sign language); intellectual disability; behavioral issues; uses melatonin?CBD oil to assist with sleep. Wakes frequently in night Susceptible to tantrums and can be aggressive to self and others; hypotonia; seizures; MRI brain abnormal, 4y-hite matter volume loss and some associated high signal within the centrum semiovale white matter, more marked on the left than the right. This may relate to previous white matter injury. - Myelination has progressed from the previous study and is otherwise within normal limits. - The cerebellar vermis, cerebellar and cerebellar peduncles are unremarkable and no evidence of a Jouberts syndrome. - 3 mm pineal cyst. 1 1 Johan den Dunnen
00454874 Pat24 PubMed: Chen 2024 - M - Ireland;Italy;Mexico white;Hispanic - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly; moderate global developmental delay; 19m-walk, gross motor skills are greatest strength although there are some concerns for hypotonia in his core, he runs, goes up and down stairs, and climbs; no speech (5y-babbles, no expressive words, able to communicate with sign words, now says mama, dada, babbling and has assistive communication device); intellectual disability; behavioral issues; Some compulsive behaviors noted; hypotonia; seizures; MRI brain abnormal, 1y-mild type 1 Chiari malformation and thinning of the posterior body of the corpus callosum and mild to moderate end-stage white matter volume loss. Now, no structural abnormalities are identified. There is a slight deficit of NAA in the left centrum semiovale, left thalamus, pons, and superior cerebellar vermis. 1 1 Johan den Dunnen
00454875 Pat25 PubMed: Chen 2024 - M - United States white - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; 2y-walk; no speech; intellectual disability; behavioral issues; Non verbal, in constant motion; hypotonia; seizures; MRI brain abnormal, abnormally thin corpus callosum with prominence of lateral ventricles felt to be secondary to decreased periventricular white matter volume, mild delay in myelination 1 1 Johan den Dunnen
00454876 Pat26 PubMed: Chen 2024 - M - United States white - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, acquired; global developmental delay; non-ambulatory; speech few words (23m-said mama); intellectual disability; behavioral issues; hypotonia; no seizures (not noted by 3 years 8 months); MRI brain abnormal, mild prominence of the temporal horns, occipital horns, bilateral atria, posterior bodies of the lateral ventricles, corpus callosum is present but appears mildly thinned posteriorly 1 1 Johan den Dunnen
00454877 Pat27 PubMed: Chen 2024 - M - United States white;Germany;Poland;Sweden;Ireland - - - - NDD see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, congenital; global developmental delay; 7y6m-walk; no speech; intellectual disability; no behavioral issues; N/A; hypotonia; seizures; MRI brain abnormal, EEG 7y-consistent with an encephalopathy. Multiple events captured consistent with nonepileptic paroxysms. Brain MRIs showed bifrontal periventricular nodular heterotopia L>R with mild prominence of the ventricular system, thin corpus callosum and some hypoplasia of the cerebral white matter. Foci of FLAIR hyperintensities in centrum semiovale/corona radiata (R>L) of unclear etiology. Decrease in cavum septum pellucidum. 1 1 Johan den Dunnen
00454878 Pat28 PubMed: Chen 2024 - F - France;Poland white - - - - NDD see paper; ..., intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; non-ambulatory; no speech; intellectual disability; no behavioral issues; N/A; hypotonia (truncal); seizures; MRI brain abnormal, 5y-thinning of corpus callosum, empty sella, enlarged ventricles, periventricular leukomalacia, punctate T2 hyperintensities, possible mild underdevelopment of the inferior cerebellar vermis. MRI at 8y - asymmetric enlargement and T2 FLAIR hyperintense signal throughout left hippocampus, which may be related to recent seizure; stable chronic changes including scattered white matter changes; 9y - development of left hippocampal atrophy at the site of previous left hippocampal enlargement. Newly associated slight ex vacuo dilatation of the left ventricle temporal horn. 1 1 Johan den Dunnen
00454879 Pat29 PubMed: Chen 2024 - M - United States white - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; severe global developmental delay; non-ambulatory as of 6th grade; no speech; intellectual disability; behavioral issues; aggression, self-injurious behaviors, spitting; hypotonia; seizures; MRI brain abnormal, 14y-diffuse cerebral sulcal prominence without malformation of cortical development identified. Subcortical white matter T2 hyperintensity present in bilateral frontal, parietal and anterior temporal lobes. Cerebellar volume and signal are normal. There is decreased anterior pituitary gland height. Posterior pituitary bright spot is normal. There is diffuse thinning of the corpus callosum, reflecting white matter volume loss. No abnormality is identified within the brainstem. The craniocervical junction is normal. Asymmetric marked enlargement of the left occipital and temporal horns is unchanged with weighted configuration of the lateral borders and adjacent white matter volume loss and patchy periventricular T2 hyperintensity. Enlargement of the third ventricle. The fourth ventricle remains normal in size. There is no polar periventricular edema. 1 1 Johan den Dunnen
00454880 Pat30 PubMed: Chen 2024 - F - India Asia-S - - - - NDD see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, congenital; moderate global developmental delay; 32m-walk; 25m-speech few words; intellectual disability; behavioral issues; Happy girl, self-biting.; hypotonia; no seizures; MRI brain abnormal, 3d-normal, 18m-generalised reduction of white matter with thin corpus callosum in posterior aspect. Deemed non-specific and probably related to neonatal insult. 1 1 Johan den Dunnen
00454881 Pat31 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; severe global developmental delay; non-ambulatory; no speech; intellectual disability; no behavioral issues; self injury, marked insensitivity to pain; seizures (treatment-resistant seizure from age 7 years); MRI brain abnormal, ventriculomegaly, right hippocampal sclerosis 1 1 Johan den Dunnen
00454882 Pat32 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white - - - - NDD see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, aquired; severe global developmental delay; 2y6m-walk; no speech; intellectual disability; behavioral issues; gets very upset with loud noise eg at school didn’t eat for a year. Anxiety - bites hands when upset.stuffs mouth with food. Tends to mouth things Shows a lot of hand regard; hypotonia (more when younger); no seizures; MRI brain abnormal, 25m-showed marked thinning of whole corpus callosum. Global reduction in white matter and prominence of lateral ventricular system. Mega cisterna magna,subtle loss of volume of brainstem. No obvious cortical dysplasia 1 1 Johan den Dunnen
00454883 Pat33 PubMed: Chen 2024 - M - Portugal white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly; severe global developmental delay; 4y-walk; no speech; intellectual disability; behavioral issues; Biting, pulling, and banging head against wall. Agitated. As of 15/04/24, has obsessive mouthing (swallowing everything with ?absent gag reflex); hypotonia; seizures; MRI brain abnormal, reduced thickness of corpus callosum and mild ventriculomegaly, lLeft hippocampus sclerosis (small and bright) 1 1 Johan den Dunnen
00454884 Pat34 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; severe global developmental delay; 2y8m-walk; no speech; intellectual disability, severe; behavioral issues; Challenging behaviour (biting hands and throwing objects), known to CAMHS Learning Disability service; no hypotonia; no seizures (2 febrile convulsions at age 3 years, nil recurrence since); MRI brain abnormal, 14m-lightly enlarged ventricles, otherwise normal 1 1 Johan den Dunnen
00454885 Pat35 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; moderate global developmental delay; 18m-walk unsteady, 2y6m-walk confident; fluent speech, 30m-first words; intellectual disability, moderate; behavioral issues; Easily frustrated, prefers routine and repetitive play; no hypotonia; seizures; MRI brain abnormal, 18m-NAD, incomplete myelination and rather small volume white matter but most likely both within normal limits 1 1 Johan den Dunnen
00454886 Pat36 PubMed: Chen 2024 - F - Philippines white;Filipino - - - - NDD see paper; ..., intra-uterine growth retardation; short stature; microcephaly; severe global developmental delay; 2y-crawl, 5y-walk; speech few words (4 words); intellectual disability; behavioral issues; sensory anxious ASD/ADHD, poor sleep, happy loving emotionally sensitive; hypotonia; seizures (3 tonic clonic, one other, absences); MRI brain normal, thought to have lissencephaly on first scan - ruled out on 2nd scan 1 1 Johan den Dunnen
00454887 Pat37 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; no short stature; no microcephaly; severe global developmental delay; 6y-walk; no speech; intellectual disability; no behavioral issues; hypotonia; seizures; MRI brain abnormal, genralised atrophy of white matter with marked ventricular dilatation, small optic chiasm, delayed visual maturation of optic nerve 1 1 Johan den Dunnen
00454888 Pat38 PubMed: Chen 2024 - M - India Asia - - - - NDD see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, congenital; severe global developmental delay; 18m-walk unsteady, 2y6m-walk confident; no speech (babbles only); intellectual disability; behavioral issues; Social anxiety - does not like shops, supermarkets or other busy places; no hypotonia; seizures; MRI brain abnormal, report from MRI done in India at 3yo suggests enlarged subarachnoid spaces and generalised white matter loss. 1 1 Johan den Dunnen
00454889 Pat39 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; 5y-walk, ataxic gait; no speech (babbles only); intellectual disability; no behavioral issues; hypotonia; seizures; MRI brain abnormal, slight reduction in white matter bulk and mildly enlarged ventricles but no structural abnormality 1 1 Johan den Dunnen
00454890 Pat40 PubMed: Chen 2024 - F - United Kingdom (Great Britain) white;Europe - - - - NDD see paper; ..., no short stature; severe global developmental delay; no speech; intellectual disability; behavioral issues; challenging behaviour on risperidone; bipolar disorder; no hypotonia; seizures 1 1 Johan den Dunnen
00454891 Pat41 PubMed: Chen 2024 - F - United Kingdom (Great Britain) white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly (2nd centile); global developmental delay; no speech; intellectual disability; no behavioral issues; Likes to put things in her mouth, described as sociable at age 10 months; no seizures 1 1 Johan den Dunnen
00454892 Pat42 PubMed: Chen 2024 - F - United Kingdom (Great Britain) Indian - - - - NDD see paper; ..., short stature; microcephaly, aquired; severe global developmental delay; 4-5 years; no speech; intellectual disability; behavioral issues; seizures; MRI brain abnormal, periventricular leuckomalacia 1 1 Johan den Dunnen
00454893 Pat43 PubMed: Chen 2024 - F - United Kingdom (Great Britain) white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly (commesurate with other growth parameters); severe global developmental delay; 2y6m-3y-walk; no speech; intellectual disability; behavioral issues; repetitive behaviours, sociable, adaptable, hates loud noises, limited variety of food; hypotonia; no seizures; MRI brain abnormal, slender bur normally modelled corpus callosum, with mild fullness of ventricles and extracerebral CSF spaces aged 7y 1 1 Johan den Dunnen
00454894 Pat44 PubMed: Chen 2024 - F - United Kingdom (Great Britain) white - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, aquired; severe global developmental delay; non-ambulatory; no speech; intellectual disability; behavioral issues; some head tapping. abn breathing pattern at times, likes to chew fingers/clothes, some head tapping, less hypersensitive since older; hypotonia; seizures; MRI brain abnormal, 13m-showed widened extracerebral CSF spaces 'gross cerebral underdevelopment'. 4y moderately severe generalised cerebral atrophy with no evidence of a neuronal migration disorder. 1 1 Johan den Dunnen
00454895 Pat45 PubMed: Chen 2024 - F - Australia white;England;Ireland - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly; severe-profound global developmental delay; mostly bum-shuffles, 7y-first wlk, can take a few steps,; no speech; intellectual disability; behavioral issues; sleep disturbance. eye poking in past. Bites hands, sticks fingers down throat; hypotonia; seizures; MRI brain abnormal, reduced white matter on MRI aged 3 months, improved on repeat MRI aged 8 years. persistent thin corpus callosum. Non-specific white matter foci. 1 1 Johan den Dunnen
00454896 Pat46 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white - - - - NDD see paper; ..., intra-uterine growth retardation; no short stature; no microcephaly; moderate-severe global developmental delay; 2y-walk; fluent speech (3y-first words); intellectual disability; behavioral issues; Bites his hands a lot; hypotonia; seizures 1 1 Johan den Dunnen
00454897 Pat47 PubMed: Chen 2024 - F - - white;jew-Ashkenazi;jew-Sephardic - - - - NDD see paper; ..., intra-uterine growth retardation; short stature; microcephaly, congenital; moderate global developmental delay; not yet walking; no speech; behavioral issues; Stereotypies: does some kicking of the legs to show that she is hungry or wants something. She does some finger wiggling in front of her eyes.; hypotonia; seizures; MRI brain abnormal, enlarging right cerebellar lesion, suspicious for low-grade neoplasm, Persistent low volume of cerebral white matter, including corpus callosum,Delayed myelination. 1 1 Johan den Dunnen
00454898 Pat48 PubMed: Chen 2024 - M - Australia white;Europe-C - - - - NDD see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, acquired (normal 34cm at birth [term] but had fallen to below the 3rd centile by 19 months); moderate global developmental delay; 17m-walked unaided; fluent speech (2y-word, able to speak full sentences by 6 years, also some signing); intellectual disability; behavioral issues; ADHD; no hypotonia; seizures; MRI brain normal 1 1 Johan den Dunnen
00454899 Pat49 PubMed: Chen 2024 - F - United Kingdom (Great Britain) white;Europe - - - - NDD see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; moderate global developmental delay; 2y-walk; 2y6m-3y-speech few words; intellectual disability; no behavioral issues; Hand flapping, over friendly, frightened of noice.; no hypotonia; seizures; MRI brain abnormal, diffuse changes globally thought to be due to hypoxia caused by the seizure. Previous brain scans carried out due to a cavernous haemangioma on vertex of scalp were normal. 1 1 Johan den Dunnen
00454901 - PubMed: Chen 2024 neurodevelopmental disorders cases Genomics England project - - United Kingdom (Great Britain) - - - - - NDD - 1 5 Johan den Dunnen
00454902 - PubMed: Chen 2024 neurodevelopmental disorders cases Genomics England project - - United Kingdom (Great Britain) - - - - - NDD - 1 1 Johan den Dunnen
00454903 - PubMed: Chen 2024 neurodevelopmental disorders cases Genomics England project - - United Kingdom (Great Britain) - - - - - NDD - 1 1 Johan den Dunnen
00454904 - PubMed: Chen 2024 neurodevelopmental disorders cases collaborators - - - - - - - - NDD - 1 5 Johan den Dunnen
00454905 - PubMed: Chen 2024 neurodevelopmental disorders cases Genomics England project - - United Kingdom (Great Britain) - - - - - NDD - 1 1 Johan den Dunnen
00454906 - PubMed: Chen 2024 neurodevelopmental disorders cases collaborators - - - - - - - - NDD - 1 2 Johan den Dunnen
00454907 - PubMed: Chen 2024 neurodevelopmental disorders cases Genomics England project - - United Kingdom (Great Britain) - - - - - NDD - 1 1 Johan den Dunnen
00454908 - PubMed: Chen 2024 neurodevelopmental disorders cases Genomics England project - - United Kingdom (Great Britain) - - - - - NDD - 1 33 Johan den Dunnen
00454909 - PubMed: Chen 2024 neurodevelopmental disorders cases collaborators - - - - - - - - NDD - 1 14 Johan den Dunnen
00454910 - PubMed: Chen 2024 neurodevelopmental disorders cases Genomics England project - - United Kingdom (Great Britain) - - - - - NDD - 1 1 Johan den Dunnen
00454911 - PubMed: Chen 2024 neurodevelopmental disorders cases collaborators - - - - - - - - NDD - 1 1 Johan den Dunnen
00454912 - PubMed: Chen 2024 neurodevelopmental disorders cases Genomics England project - - United Kingdom (Great Britain) - - - - - NDD - 1 1 Johan den Dunnen
00454913 patient PubMed: Schot 2024 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - NDD see paper; ..., global developmental delay, hypotonia, microcephaly, seizures, recognizable facial features 1 1 Johan den Dunnen
00459794 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459795 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459796 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459797 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459798 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459799 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459800 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459801 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459802 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459803 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459887 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459888 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459889 - Journal: Quinodoz 2025 2 RP families - - - - - - - - RP - 1 2 Johan den Dunnen
00459890 - Journal: Quinodoz 2025 9 RP families - - - - - - - - RP - 1 9 Johan den Dunnen
00459891 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459892 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459893 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459894 - Journal: Quinodoz 2025 2 RP families - - - - - - - - RP - 1 2 Johan den Dunnen
00459895 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459896 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459897 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459898 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459899 - Journal: Quinodoz 2025 2 RP families - - - - - - - - RP - 1 2 Johan den Dunnen
00459900 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459901 - Journal: Quinodoz 2025 1 RP family - - - - - - - - RP - 1 1 Johan den Dunnen
00459902 - Journal: Quinodoz 2025 4 RP families - - - - - - - - RP - 1 4 Johan den Dunnen
00459903 - Journal: Quinodoz 2025 3 RP families - - - - - - - - RP - 1 3 Johan den Dunnen
00460068 RNU4-2-FamA Journal: Quinodoz 2025 family, 8 affected - - - - - - - - RP retinitis pigmentosa 1 8 Susanne Roosing
00460069 RNU4-2-FamB Journal: Quinodoz 2025 family, 9 affected - - Spain - - - - - RP retinitis pigmentosa, reduced penetrance 1 9 Susanne Roosing
00460070 RNU4-2-FamC Journal: Quinodoz 2025 family, 4 affected - - Spain - - - - - RP retinitis pigmentosa, reduced penetrance 1 4 Susanne Roosing
00460071 RNU4-2-FamD Journal: Quinodoz 2025 family, 10 affected - - United States - - - - - RP retinitis pigmentosa 1 10 Susanne Roosing
00460072 RNU4-2-FamE Journal: Quinodoz 2025 family, 1 affected, unaffected parents - - Germany - - - - - RP retinitis pigmentosa, reduced penetrance? 1 1 Susanne Roosing
00460073 RNU4-2-FamF Journal: Quinodoz 2025 family, 4 affected - - Spain - - - - - RP retinitis pigmentosa, reduced penetrance? 1 4 Susanne Roosing
00460074 RNU4-2-FamG Journal: Quinodoz 2025 family, 4 affected - - Poland - - - - - RP retinitis pigmentosa, reduced penetrance 1 4 Susanne Roosing
00460075 RNU4-2-FamH Journal: Quinodoz 2025 family, 3 affected - - Germany - - - - - RP retinitis pigmentosa 1 3 Susanne Roosing
00460076 RNU4-2-FamI Journal: Quinodoz 2025 family, 1 affected, unaffected parents - - United Kingdom (Great Britain) white - - - - RP retinitis pigmentosa 1 1 Susanne Roosing
00460077 RNU4-2-FamJ Journal: Quinodoz 2025 family, 2 affected - - United Kingdom (Great Britain) Afro-carribean - - - - RP retinitis pigmentosa, reduced penetrance 1 2 Susanne Roosing
00460078 RNU4-2-FamK Journal: Quinodoz 2025 family, 2 affected - - - white - - - - RP retinitis pigmentosa 1 2 Susanne Roosing
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