All individuals with variants in gene HECW2

41 entries on 1 page. Showing entries 1 - 41.
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00095908 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NDHSAL developmental delay moderate (HP:0001263), intellectual disability (HP:0002342), autism (HP:0000717), hypotonia (HP:0001252), sit 9m, walk 3y, 5y-generalised tonic clonic seizures (now seizure free), hand flapping, self-injurious behaviours, aggressive behaviour, inappropriate laughter, wide-based gait, exercise intolerance, strabismus, gastro-oesophageal reflux disease, constipstion, MRI-brain normal, midface retrusion, thin vermillion upper lip 1 1 Johan den Dunnen
00095909 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDHSAL developmental delay (HP:0001263), intellectual disability mild (HP:0001256, IQ=55), autism (HP:0000717), hypotonia (HP:0001252), sit 12m, walk 3y (with braces), talk 2y (few words), EEG excessive slowing with abnormal burst discharges, self-stimulatory behaviour, no visual problems, MRI-brain normal, no gastrointestinal problems, flat nasal bridge, mild epicanthal folds, telecanthus, thick eyebrows, synophrys, short, upturned nose with bulbous nasal tip, midface hypoplasia, full lower lip, widely spaced teeth, tongue protrusion, thick supraorbital ridge, deep set eyes, mouth is wide and down turned, prominent central incisors, joint laxity in knees, ankles, pain insensitivity 1 1 Johan den Dunnen
00095910 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, affected mono-zygotic twin pair, unaffected non-carrier parents F - United States - - - - - NDHSAL developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, currently intractable tonic seizures, rocking and flapping hand behaviours, strabismus, nystagmus with fevers, MRI-brain mild ventriculomegaly and increased extra-axial fluid, G-tube fed, deep set eyes, ptosis, prominent forehead, osteopenia, frequent waking at night 1 2 Johan den Dunnen
00095911 - PubMed: Berko 2017, Journal: Berko 2017 twin sister F - United States - - - - - NDHSAL developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, currently intractable tonic seizures, rocking and flapping hand behaviours, strabismus, nystagmus with fevers, MRI-brain mild ventriculomegaly and increased extra-axial fluid, G-tube fed, deep set eyes, ptosis, prominent forehead, osteopenia, frequent waking at night 1 1 Johan den Dunnen
00095912 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NDHSAL developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, no seizures, repetitive hand movements, self-injurious behaviours, cortical visual impairment, MRI-brain normal, gastrointestinal requires burping regularly, slightly large ears, upturned nose with bulbous nasal tip 1 1 Johan den Dunnen
00095913 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDHSAL developmental delay (HP:0001263), intellectual disability (HP:0001249), hypotonia (HP:0001252), sit unable, infantile spasms starting ∼5 m (few months seizure free), rno abnormal behaviours, cortical visual impairment, MRI-brain cerebral atrophy, thin corpus callosum, G-tube fed, sparse eyebrows, slightly depressed nasal bridge, upturned nasal tip, hyperglutaminaemia, scrotal hypoplasia, pectus excavatum 1 1 Johan den Dunnen
00095914 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NDHSAL developmental delay (HP:0001263), intellectual disability (HP:0001249), no autism (-HP:0000717), hypotonia (HP:0001252), sit unable, walk unable, EEG multifocal and generalised epileptiform and slow spike-wave discharges with diffuse background slowing, self-stimulatory rocking, sucking on fingers, choreiform movements, optic atrophy, cortical visual impairment, MRI-brain progressive cerebral atrophy with mild cerebellar loss, atrophy of visual pathways, several small arachnoid cysts G-tube fed, gastroparesis, constipation, hypotonic facies, highly arched palate, gracile bones, mild osteopenia throughout with no definite dysplasia, cardiomyopathy started prenatally, heart block, prolonged QT interval 1 1 Johan den Dunnen
00239139 - - - F - China Chinese 00y04m - - - epilepsy Infantile spasms (HP:0012469); Neurodevelopmental delay (HP:0012758); 1 1 Mengna Zhang
00239140 - - - F no China Chinese 00y10m - - - epilepsy infantile spasms(HP:0012469), Neurodevelopmental delay (HP:0012758), Muscular hypotonia (HP:0001252),Intrauterine growth retardation (HP:0001511) 1 1 Mengna Zhang
00390065 Pat12 PubMed: Kritioti 2021 - F - Cyprus Greece - - - - ? Severe intellectual disability, developmental delay, self-injurous behaviour, absent speech, hypotonia, contractures of upper limbs, hand flapping, scoliosis, macrostomia, broad nasal tip, squint, irregular menses, facial dysmorphic features 2 1 Johan den Dunnen
00393155 patient PubMed: Rodríguez-García 2022, Journal: Rodríguez-García 2022 - F ? Spain - - - - - NDHSAL - 1 1 Francisco Martínez-Azorín
00412332 Pat1 PubMed: Acharya 2022 - F - - - - - - - NDD last assessment middle childhood; microcephaly; no short stature; intellectual disability; developmental delay; speech not yet achieved; early adolescence absence seizure suspected, generalized tonic clonic seizure, petit mal, infantile spasms, drop seizures, foods can act as trigger; hypotonia; small hands and feet; osteoporosis diagnosed during middle childhood; essential tremor starting during middle childhood, stereotypic movements, hand flapping; optical nerve hypoplasia diagnosed during infancy with associated vision loss; normal hearing; no dysmorphism; constipation; no autism spectrum disorder, autistic features (no formal diagnosis), self-stimulatory behavior (hand flapping); no failure to thrive; recurrent insomnia; brachydactyly of hands and feet, decreased bone mineralization during middle childhood, bone deformation of lower extremities requiring medical fracture and fixation for correction; chronic bronchitis diagnosed during infancy, tonsilectomy; MRI brain normal; Spot EEG normal as a toddler, 24hr EEG in middle childhood was abnormal; 1 1 Johan den Dunnen
00412333 Pat2 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment toddler; OFC -0.26 SD; no microcephaly; walking not yet achieved; developmental delay; regression of babbling as a toddler, currently no speech; axial hypotonia; normal joints; frequent inducible episodes with dystonic posturing of distal arms and legs, oculogyric spasms and ending with repetitive tongue thrusting and lip smacking; bilateral dissociated vertical deviation with associated nystagmus, astigmatism; normal hearing; no dysmorphism; GERD; no sleeping difficulties; no skeletal abnormalities; laryngomalacia; MRI brain normal; EEG normal; Sinus bradycardia 1 1 Johan den Dunnen
00412334 Pat3 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment early childhood; height -3.5 SD, OFC -1 SD; no microcephaly; short stature; walking not yet achieved; developmental delay; speech not yet achieved; seizures/epilepsy; axial hypotonia; arthrogryposis; choreoathetosis; absent ocular fixation; history of recurrent otitis media; no dysmorphism; GERD; no autism spectrum disorder; failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain normal; Spike predominant in sleep; 1 1 Johan den Dunnen
00412335 Pat4 PubMed: Acharya 2022 adopted F - - - - - - - NDD last assessment middle childhood; height +0.53 SD, OFC +0.28 SD; no microcephaly; no short stature; delayed walking (>18m, toddler); intellectual disability; developmental delay; sentences, receives speech therapy, seen improvements; no seizures/epilepsy; hypotonia; normal joints; normal movement; norml vision; normal hearing; no dysmorphism; GI dysmotility/feeding problems; autism spectrum disorder, ADHD, toilet training difficulty, behavioral concerns (compliance, impulse control, attention, social problem solving and aggression); no failure to thrive; no sleeping difficulties; no skeletal abnormalities; 1 1 Johan den Dunnen
00412336 Pat5 PubMed: Acharya 2022 - F - - - - - - - NDD last assessment late adolescence; height -0.5 SD, OFC -3 SD; microcephaly; no short stature; delayed walking (>18m, early childhood), uses braces; intellectual disability; developmental delay; isolated words, no sentences; no seizures/epilepsy, two generalized seizures, first during infancy, second as adult, since then, she is treated by valproate, no recidive under this treatment; hypotonia; normal joints; stereotypies; norml vision; recurrent otitis media; gingival hypertrophy; no GI dysmotility/feeding problems; no autism spectrum disorder, autistic features (no formal diagnosis), intolerance to frustration, unmotivated laughter; no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain normal; 1 1 Johan den Dunnen
00412337 Pat6 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment early childhood; height -1.93 SD, OFC -0.40 SD; no microcephaly; borderline short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved, babbling (intermittent) as toddler; no seizures/epilepsy; hypotonia; normal joints; normal movement; cortical visual impairment; normal hearing; no dysmorphism; no GI dysmotility/feeding problems; no autism spectrum disorder, self-stimulatory behavior (rocking, thumb biting and sucking); no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain global cortical atrophy, otherwise normal; EEG normal; 1 1 Johan den Dunnen
00412338 Pat7 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment middle childhood; height +0.95 SD, OFC +0.49 SD; no microcephaly; no short stature; delayed walking (>18m, early childhood); no intellectual disability; developmental delay; delayed speech, first used words in early childhood; no seizures/epilepsy; hypotonia; normal joints; dystonia; supranuclear gaze palsy with abnormal conjugate movements; normal hearing; dysmorphism; no GI dysmotility/feeding problems; no autism spectrum disorder, ADHD, concerns for anxiety; no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain normal; 1 1 Johan den Dunnen
00412339 Pat8 PubMed: Acharya 2022 - F - - - - - - - NDD last assessment middle childhood; height -2.5 SD, OFC -1 SD; no microcephaly; short stature; delayed walking (>18m, early childhood), uses braces; intellectual disability; developmental delay; delayed speech, language ability in the lower-middle range; no seizures/epilepsy; hypotonia; hyperlaxity knees and fingers; normal movement; visual evoked potentials latency with associated cortical visual impairment; normal hearing; no dysmorphism; GERD; no autism spectrum disorder; failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain normal; no cardiac abnormalities 1 1 Johan den Dunnen
00412340 Pat9 PubMed: Acharya 2022 - F - - - - - - - NDD last assessment early adolescence; height -2.25 SD, OFC -1.57 SD; no microcephaly; short stature; walking not yet achieved; intellectual disability; developmental delay; delayed speech, limited language ability; no seizures/epilepsy, staring spells with loss of awarness concerning for absence seizures; hypotonia; normal joints; normal movement; cortical visual impairment; normal hearing; no dysmorphism; Infrequent bowel movements and constipation; no autism spectrum disorder, autistic features (no formal diagnosis); failure to thrive; insomnia; no skeletal abnormalities; MRI brain normal as toddler and in early childhood, in middle childhood there was minimal parietal periventricular white matter volume loss with nonspecific, but abnormal T2-FLAIR hyperintensities; Sedated EEG in middle childhood: Right central-parietal-temporal slowing suggesting a focal cerebral dysfunction in that region, EEG during infancy was normal; 1 1 Johan den Dunnen
00412341 Pat10 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment early childhood; height -0.38 SD, OFC +1.26 SD; no microcephaly; no short stature; delayed walking (>18m, toddler); developmental delay; delayed speech; no seizures/epilepsy; hypotonia; normal joints; normal movement; cortical visual impairment, strabismus; normal hearing; no dysmorphism; no GI dysmotility/feeding problems; behavioral problems; no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain small benign hygromas of infancy, otherwise normal; 1 1 Johan den Dunnen
00412342 Pat11 PubMed: Acharya 2022 - F - - - - - - - NDD last assessment early childhood; height -0.1 SD, OFC -0.7 SD; no microcephaly; no short stature; delayed walking (>18m, toddler); intellectual disability; developmental delay; speech not yet achieved, no words, only babbling; intractable atonic and tonic seizures; hypotonia; normal joints; normal movement; strabismus; normal hearing; no dysmorphism; no GI dysmotility/feeding problems; no autism spectrum disorder, hyperactive, autistic features (no formal diagnosis); no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain cortical dysplasia of left temporal lobe; Generalized epileptiform discharges in ictal and inter ictal EEG; 1 1 Johan den Dunnen
00412343 Pat12 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment early childhood; height -2.20 SD , OFC -2.17 SD; microcephaly; short stature; walking not yet achieved; intellectual disability; developmental delay; speech regression at early childhood, currently no soeech; no seizures/epilepsy; hypotonia; normal joints; stereotypic movements, hand flapping; unilateral strabismus, amblyopia (corrected); normal hearing; no dysmorphism; constipation; no autism spectrum disorder, frequent outbursts when frustrated, repetitive hand flapping; insomnia; no skeletal abnormalities; MRI brain T2-FLAIR hyperintensities in the left frontal lobe, centrum semiovale and bilateral periventricular parietal and occipital regions; Routine EEG as a toddler was normal; Normal sinus rhythm assessed during early childhood 1 1 Johan den Dunnen
00412344 Pat13 PubMed: Acharya 2022 - F - - - - - - - NDD last assessment early childhood; height -2.99 SD, OFC -3.59 SD; microcephaly; short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy; hypotonia; dystonic movement disorder; strabismus, corrected during late infancy; normal hearing; distinct features; GERD diagnosed in early childhood, constipation, diet supplemented with formulated meal replacement; no autism spectrum disorder, notably worsening behavior with fever; failure to thrive; sleeping difficulties; no skeletal abnormalities; SGA history in the pregnancy, preterm labor, sensory overload, reactive airway diagnosed as a toddler; MRI brain normal; no cardiac abnormalities 1 1 Johan den Dunnen
00412345 Pat14 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment early childhood; height +1.65 SD; no microcephaly; no short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved; etit mal seizures during early childhood:,1-2 per week responsive to medication,,later in early childhood:severe intractable generalized seizures; axial hypotonia diagnosed during infancy; peripheral hypertonia/spasticity at late infancy/early childhood; joint stiffness, difficult to evaluate in setting of chorea with spasticity; chorea with spasticity and motor stereotypies; cortical visual impairment, nystagmus (resolved during early childhood), lagophthalmos (intermittent); normal hearing; anterior hairline, prominent forehead, hyptonic triangular face, deep set eyes, prominent nasal curve, poorly formed philtrum, wide palate, wide spaced teeth, prominent ears, deep creases of palms amd soles, prominent fetal fat pads, yellowish hyperpigmentation of lower thoracic spine, brachycephaly; GERD diagnosed in early childhood, constipation, G-tube; autism spectrum disorder, self-stimulatory behavior (head shaking, rocking, hand flapping); no failure to thrive; sleeping difficulties; no skeletal abnormalities; severe sensory processing disorder, dysautonomia; MRI brain normal; Abnormal during early childhood; no cardiac abnormalities 1 1 Johan den Dunnen
00412346 Pat15 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment early childhood; height -1.27 SD, OFC +0.21 SD; no microcephaly; no short stature; intellectual disability; developmental delay; speech not yet achieved; febrile seizures during infancy, seizures as a toddler, responded to antiepileptics; hypotonia diagnosed as a toddler; norml vision; history of recurrent otitis media as an infant/toddler, pressure equalization tubes as a toddler; no dysmorphism; no GI dysmotility/feeding problems; no autism spectrum disorder, notably worsening behavior with fever, self-stimulatory behavior (repetitive flipping of book pages), self-injurious behavior (head banging and biting); no failure to thrive; sleeping difficulties; no skeletal abnormalities; MRI brain normal; Abnormal as a toddler; no cardiac abnormalities 1 1 Johan den Dunnen
00412347 Pat16 PubMed: Acharya 2022 - F - - - - - - - NDD last assessment early childhood; height -2.33SD, OFC -0.51SD; no microcephaly; short stature; late walking; intellectual disability; developmental delay; delayed speech, 20 single words and 5 signs in early childhood; no seizures/epilepsy; hypotonia diagnosed during infancy; restless leg syndrome, dyspraxia suspected as a toddler; norml vision; normal hearing; prominent forehead, big mouth, thin hair, fingernail dysplasia; no GI dysmotility/feeding problems; no autism spectrum disorder, temperamental, attached to mom, no aggression, no self-injurious or self-stimulatory behavior; failure to thrive; sleep apnea, night episodes in early childhood (cries inconsolably, arches back, stiffens legs lasting 1-2 hours about once per week) - unlikely seizures; no skeletal abnormalities; MRI brain normal; Abnormal spot EEG during infancy; no cardiac abnormalities 1 1 Johan den Dunnen
00412348 Pat17 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment middle childhood; height -1.95 SD, OFC -1.08 SD; no microcephaly; borderline short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy; hypotonia diagnosed during infancy; generalized joint hypermobility with subluxation of fingers at MCP joints, hindfoot deformity with hypermobility; dyspraxia suspected during infancy, Stereotypic movements, Non-purposeful movements of arms and legs with limb stiffening; cortical visual impairment, foveal hypoplasia, bilateral astigmatism, coloboma of left optic nerve, bilateral strabismus, intermittent esotropia; history of recurrent otitis media up to middle childhood, abnormal hearing test as a toddler, PE tubes in early childhood, persistent middle ear effusion; distinct: brachycephaly, prominent forehead, temporal receding of scalp hair, mild midfacial hypoplasia, deep set eyes, prominent nasal bridge, high arched palate (mild), small teeth; constipation diagnosed during infancy, G-tube during middle childhood; no autism spectrum disorder, inappropriate laughter at times, self-stimulatory movement (rocking- hand flapping, head banging, wakes up screaming at night; failure to thrive; no sleeping difficulties; hindfoot deformity with hypermobility, mild pectus excavatum; high pain tolerance, pneumonia(3 to 4 times), urinary reflux (grade iii/iv), trimethoprim prophylaxis started during infancy, skin translucency, peanut allergy, undescended genitalia, intrauterine growth restriction; MRI brain mild-moderate bifrontal cerebral atrophy with enlarged frontal horns of lateral ventricles, Some diffuse brainstem atrophy is likely present as well, Abnormal optic global structures bilaterally; Abnormal 24h EEG during middle childhood, no seizures; no cardiac abnormalities 1 1 Johan den Dunnen
00412349 Pat18 PubMed: Acharya 2022 - F - - - - - - - NDD last assessment middle childhood; height +0.65 SD, OFC +0.38 SD; no microcephaly; no short stature; delayed walking (>18m, early childhood), uses braces; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy, benign non-epileptic shuddering events; hypotonia diagnosed during infancy,L-sided Torticollis with associated plagiocephaly (resolved); mild generalized joint hypermobility; stereotypic movements, rocking, hand flapping and tapping; cortical visual impairment, bilateral strabismus, intermittent exotropia, myopia diagnosed at late infancy; normal hearing; shortened mandible, teeth widely spaced mildly, plagiocephaly at birth; constipation; autism spectrum disorder, automatisms, episodic inconsolability, screaming fits and irritability (night > day), self-stimulatory (rocking, hand flapping and tapping, other repetitive hand movements, clucking) and self-injurious behavior, inappropriate laughter; no failure to thrive; sleep difficulties with screaming fits; no skeletal abnormalities; breathing abnormalities (occasional hyperventilation), bruxism - intermittent; MRI brain abnormal, infancy: expansion of the extra-axial fluid spaces, early childhood: white matter volume loss most apparent in the bilateral parietal regions, no evidence of progressive white matter volume loss at a later date; Several Spot EEG's each normal, 24h EEG done as a toddler was also normal; no cardiac abnormalities 1 1 Johan den Dunnen
00412350 Pat19 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment middle childhood; height -0.56 SD; no microcephaly; no short stature; delayed walking (>18m, early childhood), uses braces; intellectual disability; developmental delay; delayed speech; febrile seizures; hypotonia diagnosed during infancy; stereotypic movement disorder involving entire body during early childhood; bilateral strabismus, intermittent esotropia; normal except for 2 frequencies in right ear and 1 frequency in left ear (deemed unlikely to affect speech), difficult to delienate from sequelae of infectious etiology; distinct features; no GI dysmotility/feeding problems; no autism spectrum disorder, self-stimulatory behavior (rocking, hand flapping and other repetitive hand movements, lining up toys/objects), self-injurious behavior (head banging, hitting, and biting) and history of aggression (resolved); no failure to thrive; no sleeping difficulties; bilateral pronation deformitiy of the feet, enamel hypoplasia, pectus excavatum; episodes of vasomotor symptoms in the hands, flushing, now painful episodes of palor and cool temperature concerning for hypoperfusion of hands, otherwise not consistent with raynaulds; MRI brain normal; 24h EEG in early childhood was normal; Small patent foramen ovale with left to right atrial shunting (incidence 25% in Normal population), incomplete right bundle branch block, benign pulmonary outflow tract murmur 1 1 Johan den Dunnen
00412351 Pat20 PubMed: Acharya 2022 - F - - - - - - - NDD last assessment middle childhood; height -1.15 SD, OFC -1.54 SD; no microcephaly; no short stature; delayed walking (>18m, early childhood), uses braces; intellectual disability; developmental delay; >100 words, communicates with simple words, verbal apraxia, word repetition; no seizures/epilepsy; hypotonia diagnosed during infancy; stereotypic movements, hand flapping and other repetitive hand movements; strabismus, intermittent exotropia (dx during early childhood); normal, otitis media x2 during early childhood; distinct facial features, prominent nose resembling those of her parents, mild macrostomia; neonatal feeding difficulties, later chewing difficulties - partly fatigue, partly behavioral, long meal times, intense feeding therapy for 1 year (in early childhood); autism spectrum disorder, self-stimulatory behavior (hand flapping and other repetitive hand movements), attention seeking behavior, tantrums, separation anxiety especially with mom; no failure to thrive; sleeping difficulties; pes planus (flat feet); cholinergic urticaria and dry patches on skin; MRI brain abnormal, minimal white matter diffusion changes, otherwise normal; EEG normal; no cardiac abnormalities 1 1 Johan den Dunnen
00412352 Pat21 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment early childhood; height +0.01 SD; no microcephaly; no short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy; axial hypotonia diagnosed during infancy; stereotypic movements, hand flapping and head tapping, opening and closing hands; cortical visual impairment, horizontal nystagmus, photophobia; normal hearing; positional posteriorly flattened plagiocephaly (resolved); neonatal feeding difficulty, poor suck, lethargic, as an infant was diagnosed with GERD and suspected cow's milk intolerance, video fluoroscopy was done demonstrating dysphagia with aspiration, borderline unsafe to swallow, as a toddler: G-tube inserted and predominantly G-tube fed; no autism spectrum disorder, self-stimulatory behavior (hand flapping and head tapping, opening and closing hands); no failure to thrive, bborderline (-1.98SD weight); no sleeping difficulties; no skeletal abnormalities; recurrent pneumonia, recurrent episodes of low-grade fever lasting 1-2 days approx once a month with worsened symptoms; MRI brain normal; Spot EEG normal during infancy; no cardiac abnormalities 1 1 Johan den Dunnen
00412353 Pat22 PubMed: Acharya 2022 - M - - - - - - - NDD last assessment early childhood; height +0.24 SD, OFC -1.05 SD; no microcephaly; no short stature; delayed walking (>18m, early childhood), uses braces; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy; hypotonia diagnosed during infancy, torticollis; bilateral optic nerve hypoplasia, upward vertical gaze palsy with setting sun phenomenon (resolved during infancy); normal hearing; no dysmorphism; GERD neonatally, resolved during infancy, diarrhea during infancy, later resolved; no autism spectrum disorder, self injurious behavior (head-banging when frustrated, repetitive, without aggression); no failure to thrive; no sleeping difficulties; no skeletal abnormalities; torticollis resolved during infancy, eczema diagnosed as a toddler; MRI brain prominent subarachnoid space of infancy, drooping splenium of the corpus callosum, anterior temporal lobes poorly developed; Abnormal during infancy, encephalopathic features; no cardiac abnormalities 1 1 Johan den Dunnen
00412354 patient PubMed: Lu 2021 - F - China - - - - - DEE see paper; ..., no microcephaly; developmental delay; infantile spasms, did not respond to vigabatrin, corticosteroids or adrenocorticotrophic hormone; hypotonia; norml vision; no GI dysmotility/feeding problems; intrauterine growth restriction; MRI brain normal; Hypsarrhythmia 1 1 Johan den Dunnen
00412355 patient PubMed: Peikes 2021 - F - Canada - - - - - NDD see paper; ..., height 0 SD, OFC; acquired microcephaly; no short stature; developmental delay; intractable tonic seizures and infantile spasms, tonic eyelid closure, body stiffening, extension of the legs and flexion of the elbows associated with decreased level of consciousness; hypotonia, spasticity, brisk DTRs and limb clonus during early childhood; paroxysmal movements, spontanious movements; cortical visual impairment; no dysmorphism; G-tube feeding; MRI brain normal, showed small lactate peak over the left basal ganglia (difficult to rule out a seizure etiology); Hypsarrhythmia with chaotic, large-amplitude slow background activity with frequent multifocal epileptiform; no cardiac abnormalities 1 1 Johan den Dunnen
00412356 - PubMed: Hamdan 2017 - - - Canada - - - - - DEE see paper; ..., intellectual disability; developmental delay; epilepsy 1 1 Johan den Dunnen
00412377 Fam21 PubMed: Halvardson 2016 - M - Sweden - - - - - NDD severe developmental dealy, absent speech, generalized epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, macrocephaly, cerebral atrophy,white matter abnormalities, ventriculomegaly 1 1 Johan den Dunnen
00412380 patient PubMed: Ullman 2018 - M - United States - - - - - NDD last assessment early childhood; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy, tonic, atonic, atypical absence, myoclonic and focal, better seizure control after medication adjustment; hypotonia diagnosed at birth; optic neuropathy and cortical visual impairment; synophrys (unibrow), frontal bossing (prominent forehead) and arched palate; MRI brain global parenchymal volume loss with associated ex vacuo ventriculomegaly, MRI before seizure onset was normal; Multifocal high-voltage spike-and-slow-wave complexes bilaterally and independently, superimposed on a slow disorganized background; 1 1 Johan den Dunnen
00412381 patient PubMed: Nakamura 2018 - F - Japan - - - - - ? see paper; ..., no microcephaly; no short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved; intractable tonic seizures; hypotonia; Rett-like features (repetitive hand movements), decreased limb and hand movement during early adolescence; cortical visual impairment; normal hearing; midface retrusion, a flat nasal bridge, telecanthus (increased inner eyelids distance), upturned upper lip, low-set ear; dysphagia, G-tube; no autism spectrum disorder, inappropriate laughter, self-stimulatory behavior; sleep pattern impairment; scoliosis, decreased since middle childhood; MRI brain cerebral, cerebellar atrophy, thin corpus callosum; Early childhood: frequent high-voltage slow wave bursts in the bilateral central regions awake, early adolescence: independent spikes in the bilateral frontal region during sleep 1 1 Johan den Dunnen
00438383 Pat102 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0010533 spasmus nutans; HP:0001249 intellectual disability; HP:0011344 severe global developmental delay; HP:0002333 motor deterioration; HP:0002353 eeg abnormality; HP:0001945 fever; HP:0012387 bronchitis; HP:0012735 cough 1 1 Johan den Dunnen
00438642 HSJ0106 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
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