All individuals with variants in gene SATB1

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00303332 ?;Pat16 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - - - - - - - - NDD see paper; ... 1 1 Johan den Dunnen
00303333 Pat17 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; profound intellectual disability; developmental delay; motor delay; speech delay, no language acquisition; dysarthria, no language acquisition; epilepsy, epileptic encephalopathy, 7m-first seizure, 19y-pharmacoresistant, multiple absences per day and tonic-clonic seizures ~ 1/month.; EEG hypsarrhythmia; hypotonia; <1y-severe spastic tetraparesis; manual stereotypies; MRI brain global supra- and subtentorial brain atrophy; regression, normal psychomotor and social development up to age 0;6y. From then, social interactions became poorer and poorer with a lot of crying, irritability, apathy and disappearance of smiles. At age 0;7y there seemed to be no more communication. Psychomotor: major regression with return to an almost vegetative state, loss of voluntary mobility and appearance of stereotypic hands movements. Regression coincided onset of seizures. Symptomatology was attributed to epileptic encephalopathy, known molecular causes of Rett-syndrome were excluded.; epilleptoid trepidation of the R lower limb; facial dysmorphisms; enamel fragility; oro-facial and deglutition dyspraxia; no cardiac abnormalities; scoliosis; no hypermobility joints; constipation; no endocrine/metabolic abnormalities; IgG 15.6g/l, IgA 1.71g/l, IgM 2.46g/l, slightly increased but measured during admission for aspiration due to swallowing dyspraxia; normal skin, normal hair, normal nails; no neoplasms; microcephaly during childhood; normal serum alkaline phosphatase levels (102 IU/L; normal range 45-117) 1 1 Johan den Dunnen
00303334 ?;Pat18 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., intellectual disability; autism spectrum disorder 1 1 Johan den Dunnen
00303335 Pat19 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 3 affected (F, 2M), unaffected non-carrier parents F - - - 19y - - - NDD see paper; ..., profound intellectual disability; developmental delay; motor delay, not able to sit; speech delay, no speech; 7m-epilepsy, epileptic encephalopathy; EEG abnormal; hypotonia; spasticity congenital; ataxia, not able to sit; MRI brain white matter hyperintensities; no regression, but almost no progression; facial dysmorphisms; amelogenesis imperfecta suggestive of Kohlschutter Tonz syndrome, 3-4y-1st tooth, delayed eruption, yellow teeth; dry skin; no neoplasms 1 3 Johan den Dunnen
00303336 Pat20 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 half brother Pat19, full brother Pat21 M - - - 15y - - - NDD see paper; ..., no abnormalities during pregnancy; birth not prematurew; profound intellectual disability; developmental delay, able to coo, whimper and laugh; motor delay, not able to sit; speech delay, no speech; epileptic encephalopathy, <1y-epilepsy with onset in infancy, seizures occuring daily in infancy: myoclonias, generalized epilepsy (valproate treatment); EEG abnormal; hypotonia; spasticity congenital; ataxia, not able to sit; MRI brain global atrophy, normal white matter; no regression, but almost no progression; facial dysmorphisms; amelogenesis imperfecta suggestive of Kohlschutter Tonz syndrome, 3-4y-1st tooth, delayed eruption, yellow teeth; dry skin; no neoplasms 1 1 Johan den Dunnen
00303337 Pat21 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 half brother Pat19, full brother Pat20 M - - - 14y - - - NDD see paper; ..., no abnormalities during pregnancy; birth 39w; profound intellectual disability; developmental delay, able to coo, whimper and laugh; motor delay, not able to sit; speech delay, no speech; epilepsy, epileptic encephalopathy, generalized epilepsy, about 1 seizure per month, 14y-deceased in status epilepticus; EEG abnormal; hypotonia; spasticity congenital, with progressive contractures of lower limbs and scoliosis; ataxia, not able to sit; hand stereotypies; MRI brain bilateral ventricular enlargement with cortical atrophy; no regression, but almost no progression; hyporeflexia but spasticity, myoclonias of mouth and eyelids; facial dysmorphisms; amelogenesis imperfecta suggestive of Kohlschutter Tonz syndrome, 3-4y-1st tooth, delayed eruption, yellow teeth; scoliosis; multiple pneumopathies; dry skin; no neoplasms 1 1 Johan den Dunnen
00303338 Pat23 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, {DOI:Den Hoed 2021:10.1016/j.ajhg.2021.01.007 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth 37w; developmental delay; motor delay, no head control at 0;7y; epilepsy, 1m-tonic seizures, pharmacoresistant; EEG abnormal, tonic seizures recorded; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; 0.3y-MRI brain normal; no regression; poor visual contact, hypoglycorachia in october 2019 (2.29 mmol/l) glycémia 4.9 mmol/l, blood/CSF= 0.46, GLUT1 mutations were excluded; facial dysmorphisms; 1y-no teeth; no drooling, dysphagia; no hearing abnormalities; possibly, evaluation ongoing, delayed visual development, but normal ophthalmologic examination; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; abdominal ultrasound normal; no urogenital abnormalities; no endocrine/metabolic abnormalities; susceptibility to viral infections; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00303339 Pat25 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 28w-oligohydramnios and fetal growth restriction; emergency caesarian section due to oligohydramnios; birth 35+4w; severe-profound intellectual disability; developmental delay; motor delay, rolling over at 2y; currently still unable to sit independently; speech delay, able to coo, cannot yet babble; dysarthria, no speech; epilepsy, uprolling of eyeballs with loss of consciousness, no tonic or clonic movement of limbs; EEG abnormal, focal epileptiform activity over right occipital region asymmetric photic driving response; central hypotonia; spasticity lower limb hypertonia and hyperreflexia, contractures of knees and ankles; ataxia, unable to walk independently; no behavioral disturbances; no sleep disturbances; MRI brain microcephaly without other brain anomalies; no regression; continuous involuntary twisting movement of hands and wrists, possible choreoathetoid movement; tall forehead, hypertelorism, blepharophimosis, short nose; widely spaced teeth; significant drooling; eats a soft diet because of aspiration/choking on solid food; no hearing abnormalities; no cortical blindness, able fix and follow with her eyes but very slowly; normal echocardiogram; tapering fingers; no hypermobility joints; constipation; no urogenital abnormalities; no endocrine/metabolic abnormalities; no recurrent infections, immunological testing not performed; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00303340 Pat27 Den Hoedt ESHG2020 C02.2, PubMed: Donnai 2005, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 2 affected sibs (F, M), unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; elective caesarian section due to fetal distress and subsequent neurological impairment in older brother; birth 38w; developmental delay; motor delay; speech delay, non-verbal; epilepsy, severe treatment refractory epilepsy, seizure frequency of 2-3/day p artial seizures with myoclonic jerk, set-ith sha of one hand moving to convulsions; EEG abnormal pattern with loss of normal rhythmic activities and frequent multi-focal discharges; truncal hypotonia; spasticity affecting all four limbs; no ataxia; no behavioral disturbances; no sleep disturbances; MRI brain incomplete myelination and enlargement of lateral ventricles, 4m-MRI brain normal; regression, less frequent vocalization, always been non-verbal; continuous tremor, myoclonus of limbs and head rolling. no other neurological abnormalities locomotor function. Tracheostomy 2005 due to "floppy palate"; no facial dysmorphisms; yellow, carious teeth; drooling, dysphagia; no hearing abnormalities; normal ERG; no cardiac abnormalities; scoliosis, conservatively managed, small hands and feet; no hypermobility joints; lactose intolerance and severe reflux which required fundoplication; gastrostomy-fed; urinary sediment (75% Calcium phosphate and 25% magnesium ammonium phosphate); 6m-elevated proline and reduced glutamine and glutamate on CSF; atypical dermatitis herpetiformis, improved with gluten-free diet, recurrent chest infections and has had 5x herpes zoster, each time resulting in increased seizure frequency, multiple allergies; vtiligo; no neoplasms; normal serum alkaline phosphatase levels 1 2 Johan den Dunnen
00303341 Pat28 Den Hoedt ESHG2020 C02.2, PubMed: Donnai 2005, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 brother M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal vaginal delivery although fetal distress and meconium staining, spent 1 week on neonatal unit for hypoglycaemia and tremors; birth 41w+3; developmental delay; motor delay; speech delay, non-verbal; 5w-epilepsy, severe treatment refractory epilepsy, with shaking of one hand, developed myoclonic jerks and extensor movements; 4m-EEG showed hypsarrhythmia; truncal hypotonia; no spasticity; no ataxia; no behavioral disturbances; sleeps a lot; 4m-CT brain enlargement of the lateral and third ventricles and the cortical sulci particularly over the surface of the left hemisphere, appearance of cerebellum indicative of maldevelopment with volume loss more marked on the left side. MRI brain at 3y normal myelination but with enlargement of the ventricles.; regression, smiled at age 1y, but by 13 years would only smile after getting lots of attention; no other neurological abnormalities; no facial dysmorphisms; yellow teeth with obvious enamel abnormalities; small discoloured teeth, microscopy of a maxillary premolar showed features consistent with ameleogenesis imperfecta, hypomineralised type; drooling, dysphagia; no hearing abnormalities; normal ERG; no cardiac abnormalities; small hands and feet; no hypermobility joints; 11y-lactose intolerance; gastrostomy-fed; recurrent urinary tract infections; 3y-elevated proline, reduced glutamine and glutamate on CSF; moderate eczema, recurrent urinary tract and chest infections, deceased in 2009 due to severe pneumonia; eczema; no neoplasms; normal serum alkaline phosphatase levels 1 1 Johan den Dunnen
00303342 Pat38 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; ..., no abnormalities during pregnancy; normal delivery; birth term; severe intellectual disability; developmental delay, severe, cannot follow commands; motor delay, unable to stand; speech delay, non-verbal at age 16y; epilepsy, complex partial seizures: prolonged staring spells with arm stiffening and turning to the left side, separate episodes of myoclonic jerks or staring spells with perioral cyanosis., initially responsive to topiramate, but now generally medically refractory (some effect of clonazepam); EEG abnormal, 9y-poor organiozation, slow background consistent with at least a moderate encephalopathy in addition to polyspike and slow wave discharge. During sedation: Poorly organized posterior basic rhythm, poorly developed theta with very prominent beta activity superimposed. Anteriorly very prominent beta predominates. During sleep: EEG normal well-formed sleep architecture seen. Intermittent periods of rhythmic bifrontal alpha waves are seen. Bursts of high amplitude polyspike and wave discharges seen, as often as every 3-4 seonds. Electrographic onset, characterized by bifrontal alpha rhythmic activity, precedes the myoclonic jerks by several seconds; general hypotonia; can sit with support but generally reclines; no spasticity; 1y-10y-extreme irritability; sleep disturbances until age 12, she experienced cyclic episodes of sleep disturbances consisting of 2 weeks of relatively normal sleep and 2 weeks with poor sleep and crying all night. Many improvement mproved since 12y; 9y-MRI brain diffuse mild prominence of the ventricular system and subarachnoid spaces; encephalopathy, frequent desaturation episodes.; high forehead, she does look dysmorphic but hard to pinpoint anything; widely spaced teeth, but normal count, upper front teeth large and protruding; a lot of drooling, enjoys chewing but cannot digest much, mother needs to control portions; no hearing abnormalities; difficult to diagnose is non-communicative, initial diagnosis delayed visual maturation, later cortical visual impairment; small persistent ductus arteriorus, not requiring surgery; delayed bone age, otherwhise no abnormalities known; no hypermobility joints; delayed stomach emptying per baryum assessment, vomiting after eating too much or too rich food; no urogenital abnormalities, 14y-spontaneous puberty; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00303343 Pat29 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; intellectual disability; developmental delay, global and significant; motor delay, walking at 5y; speech delay, averbal; dysarthria, averbal; 2y-epilepsy, refractory generalized epilepsy, generalized tonic-clonic seizures 2-7x/wk, atonic seziures 1-7x/wk, episodes with status epilepticus, sudden death in epilepsy; Yes (Evidence of multifocal mainly bi-frontocentral epileptiform activity, more frequently occurring during sleep than during wakefulness); neonatal hypotonia; no spasticity; mild truncal ataxia; autism spectrum disorder; difficulty initiating sleep - thought to be side-effects of medication; MRI brain no structural abnormalities; no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; loose stools; no urogenital abnormalities; low vitamin D; normal immunoglobulins; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels 1 1 Johan den Dunnen
00303344 Pat30 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; prolonged labor and vacuum extraction; birth 40w; intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; 7m-epilepsy, frontal lobe seizures, consisting of bilateral hip, knee, elbow flexion with crying during sleep occurring in clusters, 3y-axial spasms, now resolved, last follow-up tonic seizures; EEG abnormal, multifocal spike and wave discharges, modified hypsarrhythmia, tonic seizure; central hypotonia; spastic gait; 14y-ataxic gait, resolved at 15y; self-mutilatory behavior: biting L hand, requiring hand restraints; sleep disturbances; MRI brain normal; regression, normal development until 0;6y, slowing of development at onset frontal seizures, was able to walk and say a few words at 2y, but by the age of 2y, development stalled, he lost the ability to walk and became non-verbal, stopped following commands and is only able to understand simple phrases; bruxism, widely spaced teeth; flexible joints; constipation; thick, dark and curly hair; failure to thrive 1 1 Johan den Dunnen
00303345 Pat31 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; ..., no abnormalities during pregnancy; normal delivery; birth term; severe intellectual disability; developmental delay, global; motor delay, wheelchair bound, never ambulant, was able to move around on floor when she was younger; speech delay, non verbal, no communication; epilepsy, 7m-clusters of seizures, continues to have approximately weekly brief tonic seizures on leviteracetem and lacosamide; right temporal activity on EEG in first year of life; hypotonia; stereotypies and hyperventilation; sleep disturbances; CT brain first year normal; no regression; very poor hand function, dependent for all activities of daily living; midface hypoplasia and infraorbital creases, broad nasal tip, long smooth philtrum; widely spaced teeth, some conical in shape, all removed due to decay; no hearing abnormalities; registered blind; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; hypermobility joints; constipation, on movicolon; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (125IU/L) 1 1 Johan den Dunnen
00303346 ?;Pat32 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ... 1 1 Johan den Dunnen
00303347 ?;Pat33 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth 37w; severe intellectual disability; developmental delay; motor delay, delayed fine motor skills; speech delay, only speaks single words; dysarthria; epilepsy, absences at young age, later epilepsy consisting of clonic seizures and complex partial seizures; EEG abnormal, epileptic activity frontal/central right: diffuse theta-delta activity or (poly)peakwaves; no hypotonia; no spasticity; autism spectrum disorder, specified as PDD-NOS; no sleep disturbances; MRI brain normal; no regression; no other neurological abnormalities; long palpebral fissure, full eyebrows, long nose with flat philtrum, posteriorly rotated, simple ears, full helices and lobes, widow's peak; remarkable developmental problem of teeth, enamel abnormalities of primary teeth, severe enamel abnormalities at time of teeth shedding, local loss of bone around primary teeth, hypereruptive teeth, loose teeth and loss of teeth/missing teeth; drooling as a child, no dysphagia; no hearing abnormalities; hypermetropia, astigmatism; no cardiac abnormalities; pedes planovalgi, otherwise normal; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; severe allergic reaction to carbamazepine, leading to vasculitis-like disease and admission at ICU, immunoglobulins not measured; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (114 U/L) 1 1 Johan den Dunnen
00303348 ?;Pat34 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; developmental delay, global; motor delay; speech delay; no dysarthria; epilepsy, 2-3m-intractable infantile-onset tonic epilepsy, downwards tucking of chin, upward rolling of eyes, motionless and unresponsive for 10-15 second, short post-ictal period of 30 seconds, evolved to medically intractable tonic seizures, seizures now under control with ketogenic diet; EEG abnormal, tonic seizure activity, summary of 2 day video/EEG monitoring: Background normal; epileptiform abnormalities: Right frontocentral spike discharges; Events: EEG normalne; central hypotonia; no spasticity; no ataxia; happy disposition but cries a lot, autism spectrum disorder concerns; severe sleep disturbances: awakens at least every 2 hours, waking up at 04:00, and then not going back to sleep until 06:00. During daytimes, naps are infrequent, and if napping, only very shortly (30 minutes); MRI brain subarachnoid space enlargement; no regression; Yes (dyskinesias of hand and feet: Intermittent abnormal body movements, during sleep twisting wrist behind body); bracycephalic, wide round face, full cheeks, asymmetry around orbits and nasal bridge, eyes downslanting similar to mother's, normal pupils, very large, normal shaped ears, normal placement and no rotation, midface hypoplasia, palate intact; oral aversion and oralpharyngeal dysphagia requiring G-tube placement; normal audiology evaluation; visual inattention, poor eye tracking, evaluated by ophalmology, reports, new concerns for optic nerve hypoplasia; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; G-tube in place, on ketogenic diet, intermittent constipation; substantial suprapubic fat pad, stretched penile length 2.5cm, testes non-palpable on the L and in the inguinal canal R; metabolic acidosis related to ketogenic diet and topiramate treatment; no neoplasms; normal serum alkaline phosphatase levels (168 U/L) 1 1 Johan den Dunnen
00303349 Pat35 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., during pregnancy duodenal atresia diagnosed on prenatal ultrasound; normal NIPT/fetal echocardiogram; required vacuum assistance; birth 39w; developmental delay; motor delay; speech delay; epilepsy; 2y-EEG after seizure onset, EEG prior to seizure onset normal; global hypotonia, both axially and appendicular; no spasticity; ataxia, 27-not walking; stereotypical movements; 0.6y-MRI brain ventricular petechial staining and hemosiderin within left parietal lobe presumably related to remote hemorrhage event with slight ventricular enlargement. No findings to explain visual symptoms, septo-optic dysplasia was ruled out.; no other neurological abnormalities; relative macrocephaly, high anterior hairline, anteverted nares, underdeveloped supraorbial ridges; no drooling, dysphagia; no hearing abnormalities; congenital nystagmus; otherwhise normal; ventricle septum defect, resolved spontaneously; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; duodenal atresia diagnosed on prenatal ultrasound, laryngomalacia diagnosed in newborn period that self-resolved; no urogenital abnormalities; growth hormone deficiency; no immunological abnormalities; sparse scalp hair which was coarse particularly in the occiput region; no neoplasms 1 1 Johan den Dunnen
00303350 Pat36 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 increased nuchal transluscency; normal delivery; birth 42w; intellectual disability (IQ <50); developmental delay; motor delay; speech delay; epilepsy, 4m-prolonged intractable generalized epilepsy and status epilepticus, started on multidrug therapy, remained on Topamax, now for the last 3 months seizure free without any anti-epileptic drug; hypotonia; no spasticity; no ataxia; autism spectrum disorder; no sleep disturbances; MRI brain within normal limits; no regression; small mouth, straight eyebrows; suspected enamel issues: already broken tooth without a trauma; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00303351 ?;Pat39 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., birth 42w; severe intellectual disability; developmental delay, global; motor delay; speech delay; epilepsy, tonic clonic seizures, absences, complex partial seizures, nocturnal seizures; truncal hypotonia; appearance of upper and lower limb spasticity; ataxia; autism spectrum disorder and hand stereotypies: clapping and hand wringing; sleep disturbances, very difficult to settle; MRI brain periventricular leukomalacia with some loss of white matter and thinning of the corpus callosum; regression, associated with seizures; brachycephaly, plagiocephaly, relatively small ears which are anteverted, broad alveolar ridges, downslant of palpebral fissurses, prominent glabella and nasal bridge; dental overcrowding and gum hypertrophy, difficulty with chewing, enamel hypoplasia; hypermetropia; ventricle septum defect; hip surgery; both constipation treated with movicolon and loose stools; poor temperature control; no particular tendency to infection, no immunological testing performed; 1 1 Johan den Dunnen
00303352 Pat40 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; ..., no abnormalities during pregnancy; normal delivery; birth term; no intellectual disability; no developmental delay; no motor delay; no speech delay; dysarthria; no epilepsy; no hypotonia; no spasticity; generalized ataxia of moderate severity; unexplained progression of cerebellar signs starting at age 27y coinciding intentional weight loss of 16 kg; no behavioral disturbances; no sleep disturbances; MRI brain cerebellar atrophy; no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; muscle inflammation - biopsy proven; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00303353 Pat41 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ... 1 1 Johan den Dunnen
00303354 Pat42 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; mild intellectual disability; developmental delay, mild; motor delay, mild; speech delay, severe, 6y-no speech; no dysarthria; no epilepsy; 4m-mild, generalized hypotonia; no spasticity; no ataxia; MRI brain normal (infancy); no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; hypermobility joints; mild constipation; no urogenital abnormalities; No; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00303355 Pat3 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth 37w; mild intellectual disability; developmental delay; motor delay, walking independantly 1;10y; speech delay; dysarthria; no epilepsy; EEG normal; no hypotonia; no spasticity; no ataxia; behavioral disturbances; no sleep disturbances; no regression; no other neurological abnormalities; asymmetry face, accesory auricles: Oculo-Auriculo-Vertebral Spectrum; dental surgery, gum problems, asymmetry; after jaw surgery; ear tag, agenesis ear canal; amblyopia; no cardiac abnormalities; fused ribs, scoliosis; no hypermobility joints; diaphragmatic hernia; no urogenital abnormalities; no endocrine/metabolic abnormalities; frequent respiratory infections childhood; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00303356 Pat4 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth 37w; mild intellectual disability, learning difficulties; developmental delay, mild global; motor delay, walking at 2y; speech delay, severe, first words at 4-5y; no dysarthria; EEG normal; hypotonia; no spasticity; no ataxia; anxiety, mild autism spectrum disorder-features; no sleep disturbances; MRI brain normal; no regression; no other neurological abnormalities; facial asymmetry; dental malposition; no drooling, dysphagia; no hearing abnormalities; myopia; aortic bicuspidy; kyphoscoliosis, dolichostenomelia, pectus excavatum; hyperlaxity; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms; Marfanoid (long and thin) habitus; normal serum alkaline phosphatase levels (75UI/L) 1 1 Johan den Dunnen
00303357 Pat26 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., imminent abortus; normal delivery; birth 39w; moderate intellectual disability; developmental delay; motor delay, sitting at 1y, walking at 2y, walking on tip toes; speech delay; dysarthria; 8m-epilepsy, fixed gaze, jerking face, tonal tension of hands, seizures gradually subsided, changed, and later became isolated nocturnal - generalized, several times a month, 7y-nocturnal generalized tonic-clonic seizures, only rarely occuring during daytime; EEG abnormal, focal epileptiformic activity; single discharges of spike-wave complexes in the L centro-frontal regions (F3-Fp1); infancy-hypotonia; 2y-spasticity, spastic diplegia; no ataxia; anxiety, chaotic and problematic behaviour; restless sleep; 0.9y-MRI brain external hydrocephalus in frontal areas; MRI (9y): arachnoid cyst in the area of right temporal pole, no hydrocephalus.; no regression; spastic diplegia, cerebral palsy, headaches; minor facial anomalies; discolored teeth, enamel hypoplasia; drooling during seizures; no hearing abnormalities; astigmatism; no cardiac abnormalities; short achilles tendons requiring surgery, gap between first and second toe, cubitus valgus; hypermobility joints; gastroesophageal reflux disease, chronic esophagitis; nocturnal enuresis; obesity; normal concentrations of immunoglobulins in serum; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (162.6 U/L) 1 1 Johan den Dunnen
00303358 Pat6 Den Hoedt ESHG2020 C02.2, PubMed: Satterstrom 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ...;; no intellectual disability (WAIS-3; full IQ:97, verbal IQ:90, performance IQ:107); developmental delay; no motor delay; no speech delay; no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; autism spectrum disorder): ADI scores (25;11y) are social 27, verbal 14, repetitive/restrictive 9, ABC within normal limits: irritability total score=2, social withdrawal total score=0, stereotypic behavior total score=1,hyperactivity total score=3, inappropriate speech total score=0; regression, decline of verbal abilities; no drooling, dysphagia 1 1 Johan den Dunnen
00303359 ?;Pat8 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; apneic episode at 12 hrs of life, requiring intubation and phenobarbital; birth 40w+3; mild intellectual disability; developmental delay, mild; motor delay, h/o of DCD, h/o toe walking in early childhood, physiotherapy and occupational therapy; speech delay, received speech therapy; no dysarthria; epilepsy, seizure-like activity age 7y, 9y, 11y - now resolved; normal EEG 2009, 2011 abnormal EEGs with bifrontal spikes; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; 7y-brain CT normal, 9y-brain MRI prominent cisterna magna; no regression; no other neurological abnormalities; facial dysmorphisms; missing molars; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; hyper IgM, not caused by any of the known genetic etiologies for this disease, IgA and IgG deficiency, on IGRT; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (99 U/L) 1 1 Johan den Dunnen
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
00303361 Pat12 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 mother reported healthy, no known concerns about development, further follow up by a geneticist not performed F - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; perinatal distress with low Apgar scores; birth 37w+3; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; EEG normal; no hypotonia; no spasticity; ataxia; no behavioral disturbances; no sleep disturbances; MRI brain normal; no regression; prominent resting low amplitude fast frequency tremor and almost titubation; subtle facial dysmorphisms; enamel dysplasia; no drooling, dysphagia; parental concerns, did not cooperate with testing; left strabismus; ventricle and atrial septum defect; no skeletal abnormalities, no limb abnormalities; hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (151 U/L) 1 1 Johan den Dunnen
00303362 Pat7 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - F - - - - - - - NDD see paper; ..., during pregnancy twin pregnancy, IVF, twin brother healthy; maternal blood pressures spiked very high during delivery. Individual was first of twins, Apgar 9/10; birth 37-38w; intellectual disability, slight disability; developmental delay; motor delay, in childhood; speech delay, in childhood; no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; anxiety, bipolar, schizoaffective, autism spectrum disorder symptoms: deficits in pragmatic language, social skills, emotional and social delays, emotional and behavioral dysregulation; sleep disturbances; no regression; deficits in spacial skills, fluid reasoning, visual memory, visual-motor skills, executive functioning; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; 7y-glasses, vision eye therapy; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological testing performed, no clinical suspicion, not prone to infections; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00361867 Pat1 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; learning difficulties; developmental delay; motor delay, mild, walked at 18m; speech delay; no dysarthria; no epilepsy; EEG normal; no hypotonia; no spasticity; no ataxia; anxiety, autism spectrum disorder; no sleep disturbances; no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; drooling; recurrent otitis media; no vision abnormalities; cardiac ultrasound normal; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological testing performed, no clinical suspicion, not prone to infections; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00361868 Pat2 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 father assessed by a geneticist healthy and cognitively normal (psychological problems), no experimental indications for mosaicism in father F - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; caesarean section; birth 39w+4; intellectual disability (IQ 65 at 6y, IQ 52 at 8y); developmental delay, unable to understand complex contexts, counts 1-8, cannot read and write but knows a few letters; motor delay, walking at 2-3y, cycling at 8y; speech delay, first words at 3y, uses short simple sentences; no dysarthria; no epilepsy; EEG normal; 1y-hypotonia, now normal muscle tone; no spasticity; no ataxia; aggressiveness, anxiety; sleeps well after problems (1-2 hours) falling asleep; MRI brain normal; no other neurological abnormalities; prominent forehead, telecanthus, broad nasal root and tip, curved lips; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological testing performed, no clinical suspicion, not prone to infections; normal skin, normal hair, normal nails; no neoplasms; rectus diastasis; normal serum alkaline phosphatase levels 1 1 Johan den Dunnen
00361869 Pat5 PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., during pregnancy period of hospitalisation for diarrhoea and vomiting; normal delivery; birth 37w; moderate intellectual disability; developmental delay, global; motor delay, sitting at 0;9y, walking at 2y; speech delay, at 3y no phrase speech, at age 7 significant difficulties with speech: virtually non-verbal as only few descernible words, specialized education; hypotonia; no spasticity; ataxia, although not obvious, unstable on feet, unable to jump, clumsy; severe: obsession, tantrums, meltdowns; erratic and fidgety, will fall asleep eventually, sleeps poorly; brain MRI some very subtle symmetric T2 signal hyper-intensity within the dorsal pons in the central tegmental tracts but no diffusion restriction and finding very non-specific; no regression; slightly wide based gait- no localizing signs. Despite bowel problems, no obvious spina bifida occulta. no other neurological abnormalities long tract signs; prominent forehead and strabismus, slighly brachycephalic; widely spaced teeth; no drooling, dysphagia; no hearing abnormalities; L divergent squint; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; hypermobility joints; bowel incontinence of unknown origin; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00361870 Pat10 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, affected father/daughter, unaffected parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth >41w; no intellectual disability; developmental delay, learning difficulties but no need for special education; motor delay, delay in fine motor skills; no speech delay; no dysarthria; 3y-epilepsy, not further defined, treated with one anticonvulsant (not known) until age 6y, 10y/15y 2 other periods of seizures due to photosensitivity while playing video games; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; brain MRI normal performed in childhood; no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; bilateral corneal curvature; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; normal skin, normal hair, normal nails; no neoplasms 1 2 Johan den Dunnen
00361871 Pat9 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 daughter F - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; caesarian section due to pathological CTG; birth 41w+0; developmental delay, severe combined disorder; developmental age at 27m is 14m; motor delay; speech delay; no dysarthria; no epilepsy; truncal hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; no regression; bilateral positive Babinski's sign, resolved; no facial dysmorphisms; no dental/oral abnormalities; drooling, no dysphagia; no hearing abnormalities; astigmatism; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; normal skin, normal hair, normal nails; no neoplasms; progressive secondary microcephaly 1 1 Johan den Dunnen
00361872 Pat15 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, affected mother/son daughter, unaffected parents F - - - - - - - NDD see paper; ..., intellectual disability, analphabet; no motor delay; no speech delay; no dysarthria; no epilepsy; generalized hypotonia; no spasticity; no ataxia; no regression; bird-like appearance; no dental/oral abnormalities; no drooling, dysphagia; no skeletal abnormalities, no limb abnormalities; normal skin, normal hair, normal nails 1 3 Johan den Dunnen
00361873 Pat13 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 son/half-brother M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth 38w+1; severe intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; generalized hypotonia; no spasticity; no ataxia; very agitated, difficulties to concentrate; no sleep disturbances; MRI brain normal; no regression; no other neurological abnormalities; no facial dysmorphisms; malformed teeth; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; toe syndactyly both sides digII/III, sandal gap left foot, transverse palmar crease right hand; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; obesity; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (316 U/L) 1 1 Johan den Dunnen
00361874 Pat14 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 daughter/half-sister F - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; mild intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; generalized hypotonia; no spasticity; no ataxia; agitated, difficulties to concentrate; lot of movement in sleep; MRI brain normal; no regression; no other neurological abnormalities; no facial dysmorphisms; malformed teeth; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; toe syndactyly left foot digII/III, short fingers; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; obesity; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (232 U/L) 1 1 Johan den Dunnen
00361875 Pat24 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., during pregnancy twin pregnancy, dizygotic, twin sister is healthy, pregnancy otherwhise uncomplicated; elective caesarian section because of twin pregnancy; birth 37w; profound intellectual disability; developmental delay; motor delay, can sit with support since approximately age 5y; speech delay; epilepsy, 3m-first seizure, tonic seizures at first, then tonic spasms of short duration, more recently, tonic, clonic, gelastic, and dacrystic with stereotypic movements; EEG abnormal, hypsarrhtymia and later multifocal discharges; 1d-hypotonia; 3y-spasticity, spasticity of lower limbs; Rett-like hand movements, head shaking; several awakenings; might be related to tonic seizures; 8m, 2y3m-MRI brain normal; no regression; hypoactive reflexes; prominent forehead, low nasal bridge, posteriorly rotated ears, widow's peak; 1y-no teeth; protruded tongue; no hearing abnormalities; strabismus; normal echocardiogram; no skeletal abnormalities, no limb abnormalities; hypermobility joints; gastroesophageal reflux with dysautonomic signs, Sandifer-like; 2x urinary tract infection, no urogenital abnormalities structural abnormality; no endocrine/metabolic abnormalities; no clinical suspicion for immunological testing; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00361876 Pat37 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth 38w+5; profound intellectual disability; developmental delay; motor delay, unable to rolling-over; speech delay, babbling only; dysarthria, babbling only; epilepsy, tonic seizures, focal impaired awareness seizures; EEG abnormal; hypotonia; no spasticity; ataxia, unable to rolling-over; hand clapping, fingersucking; no sleep disturbances; 3m-MRI brain normal, 3y-slight atrophy; no regression; thick eyebrows, thick lips; no dental/oral abnormalities; drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels 1 1 Johan den Dunnen
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