All individuals with variants in gene DLG4

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00039389 Pat1/Pat77/Pat1 PubMed: Bosch 2016, Journal: Bosch 2016, PubMed: Lelieveld 2016, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M no Netherlands - - - - - CVI, ID birth 39w, weight 3640g; height 118cm (P50), OFC 51,5cm (P40); delayed motor mevelopment; normal language development; intellectual disability; autism; normal muscle tone; no epilepsy; MRI normal; nystagmus; normal hearing; long eyelashes; full nasal tip, long columella; thin upper lip; large ears; joint laxity; fragmented palmar creases, short distal finger and toe phalanges, longitudinally grooved fingernails, fetal finger pads, syndactyly II-III toes, clinodactyly IV-V toes 1 1 Danielle Bosch
00050400 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? progressive microcephaly, deeply set eye, palpebral edema, short nose, narrow mouth, depressed nasal bridge, full cheeks, small feet, short palm, abnormality of the tragus 1 1 Johan den Dunnen
00144382 P1/Pat46 PubMed: Moutton 2018, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M no France - 23y - - - ? normal pregnancy; birth 38w, length 51cm, weight 3450g; weight 68kg (P50), height 173cm (P50), OFC 57cm (P95); delayed motor mevelopment, normal gait; delayed hand skills; delayed language development (receptive); no regression; mild intellectual disability, IQ 56; no autism; anxiety; no attention deficit hyperactivity disorder; withdrawn behavior; dystonia; dystonia; no epilepsy; EEG normal; MRI normal; nystagmus; normal hearing; skin striae; long face; normal eyes; normal nose; normal philtrum; high-arched palate; normal chin; normal ears; dolichostenomelia; mild scoliosis joint laxity; long and thin fingers pes planus; Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency 1 1 Sébastien Moutton
00144395 P2/Pat24 PubMed: Moutton 2018, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M no France - 21y - - - ? normal pregnancy; birth at term, length 50cm, weight 3150g, OFC 35cm; weight normal, height 183.5cm; moderate intellectual disability; no autism; no epilepsy; MRI vermis atrophy; strabismus; long face; high-arched palate; pectus anomaly joint laxity; long and thin fingers; Marfanoid habitus; 1 1 Sébastien Moutton
00144396 P3/Pat41 PubMed: Moutton 2018, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected parents M no France white 35y - - - ? pregnancy decreased active fetal movement; birth 39w, length 48cm, weight 2850g; weight 70kg (P35), height 183cm (P80), OFC 56cm (P37); severely delayed language development; moderate intellectual disability; autism; 14y-epilepsy; MRI cortico-subcortical atrophy; strabismus; long face; high-arched palate; limited elbow extension, pectus anomaly; long and thin fingers; Marfanoid habitus; floppy mitral valve,; 1 1 Sébastien Moutton
00245886 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Absent speech (HP:0001344); Sleep disturbance (HP:0002360); Increased body weight (HP:0004324) 1 1 IMGAG
00392035 140P - - F no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00412301 199634 - - M - Germany - - - - - MRD62 Intellectual disability, moderate 1 1 Andreas Laner
00418907 Pat2 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD birth 40w, length 50cm, weight 3430g, OFC 34cm; weight 42kg (P65), height 137cm (P22), OFC 55cm (P75); delayed motor mevelopment, 20m-walk, normal gait; normal hand skills; normal language development; no regression; no language regression; no motor regression; mild intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; OCD, repetitive behaviours; no abnormal movements; normal muscle tone; 9y-epilepsy, generalized; EEG abnormal; MRI normal; hyperopia; normal hearing; eczema; long face; normal eyes; normal nose; normal philtrum; thin upper lip vermillon, wide mouth; normal chin; large ears, thick ears; no skeletal manifestations; brachydactyly,feet syndactyly II-III; no Marfanoid habitus; no heart/aorta defects; vomiting; no endocrine dysfunction; normal breathing; no bruxism; sleep problems; no peripheral vasomotor disturbances; diminished pain response; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418908 Pat3 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD pregnancy mother on bipolar medications, nuchal cord, cyanosis at delivery but revived OK; birth 34w, length 46cm, weight 2386g; weight 61kg (P76), height 169.5cm (P86), OFC 55.1cm (P70); delayed motor mevelopment, normal gait; delayed hand skills use of utensils and writing; normal language development; no regression; no language regression; no motor regression; mild intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; hallucinations, suicidal ideations, thoughts of harming others (was sexually abused during childhood); tremors; normal muscle tone; no epilepsy; MRI normal; myopia; normal hearing; skin increased elasticity, striae on buttocks, hips, upper outer thighs and breasts; broad forehead midfacial hypoplasia; downslanting palpebral fissures; bulbous tip; normal philtrum; normal mouth; prognathism; ears protuberant superior helices slightly small; thoracic dextroscoliosis joint laxity; flat feet ankle pronation; Marfanoid habitus; borderline mitral valve prolapse, no heart/aorta defectsrmal aortic root size (Z-score 0.95); vomiting; no endocrine dysfunction; normal breathing; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; premenstrual symptoms, behavioral abnormalities; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418909 Pat4 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, affected monozygotis twin brothers, unaffected non carrier parents M - - - - - - - NDD maternal pre-eclampsia with twin pregnancy prompting induction at 34w; birth 34w5d, length 43cm, weight 1786g, OFC 32cm; weight 17.6kg (P4), height 112cm (P11), OFC 49.6cm (P8); delayed motor mevelopment, deficits in motor planning and strengt, 2y-walk, low strength, hyperextensible limbs; delayed hand skills (impaired pincer grasp); mild delay language development (expressive>receptive, speaks in short sentences, difficulty with articulation); no regression; no language regression; no motor regression; mild intellectual disability; no autism; no anxiety; no attention deficit hyperactivity disorder; happy, hypersocial; no abnormal movements; hypotonia; no epilepsy; EEG normal; MRI normal; strabismus, hyperopia requiring surgery; normal hearing; normal skin; hyperextensible knees requiring afos joint laxity; normal hands/feet; Marfanoid habitus; no heart/aorta defects; reflux, early satiety, vomiting; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, restless w/ frequent nighttime awakening; no peripheral vasomotor disturbances; no diminished pain response; intense eye communication; no genital malformations; no infection tendency 1 2 Johan den Dunnen
00418910 Pat5 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 brother M - - - - - - - NDD maternal pre-eclampsia with twin pregnancy prompting induction at 34w; birth 34w5d, length 48cm, weight 2551g, OFC 33cm; weight 19.3kg (P23), height 113cm (P18), OFC 51cm (P35); delayed motor mevelopment, deficits in motor planning and strength, 2y-walk, low strength, hyperextensible limbs; delayed hand skills (impaired pincer grasp); mild delay language development (expressive>receptive); no regression; no language regression; no motor regression; mild intellectual disability; no autism; separation anxiety, especially with change in environment; no attention deficit hyperactivity disorder; no abnormal movements; hypotonia; no epilepsy; EEG normal; strabismus, hyperopia requiring surgery; normal hearing; normal skin; hyperextensible knees requiring afos; normal hands/feet; Marfanoid habitus; no heart/aorta defects; feeding difficulties when younger; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, restless w/ frequent nighttime awakening; no peripheral vasomotor disturbances; no diminished pain response; intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418911 ?/Pat6 PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD pregnancy 26w-bleeding, otherwise normal; birth 38w, weight 2976 (p14)g; weight 78.8kg (P98), height 15y-161.9cm (P58), OFC 6y-51.5cm (p25-50); delayed motor mevelopment, ataxic gait; normal hand skills; speech 2y-first words, then stopped, 6y-no speech, currently nonverbal, communicates with ipad and paper symbols, uses eye poiting; 1-2y-regression; language regression; no motor regression; severe intellectual disability; autism; no anxiety; no attention deficit hyperactivity disorder; over friendly with strangers; stereotypies (hand flappng) ataxia; hypotonia; 15y-epilepsy; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; square shaped face; blue eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; scoliosis onset age 3 years, requiring surgery (titanium rod) age 14 years joint laxity; slightly large hands, soft and brittle nails; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418912 Pat7 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth at term, length 53,3cm, weight 3628g; weight 26.4kg (P25-50), height 123cm (P50-75), OFC 54cm (P90-95); early motor milestones on target, delayed fine motor skills, normal gait; delayed hand skills; early speech milestones on target, further expressive language delayed, currently speaks in short phrases occasionally, otherwise nonverbal; 4y-regression; language regression; no motor regression; mild intellectual disability (6y6m IQ 69; no autism; no anxiety; no attention deficit hyperactivity disorder; hyperactive, dyspraxia; no abnormal movements; hyptonia; 7y-epilepsy, focal, refractory, ESES; EEG abnormal - multifocal spikes, ESES; MRI normal; 4y-elevated CPK; strabismus (left exotropia); normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; concern for precoucious puberty; normal breathing; sleep problems, abnormal breathing during sleep; no peripheral vasomotor disturbances; diminished pain response; no intense eye communication; no genital malformations; no infection tendency (normal immunology workup) 1 1 Johan den Dunnen
00418913 Pat8 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD Caesarean due to maternal sepsis; birth 37w2d, weight 3516g; weight 8.3kg (P<1), height 80.8cm (P3), OFC 47cm (P19); MRI normal; hypertelorism synophrys thick eyebrows; small nasal base; full lips; single palmar creases; premature pubarche; 1 1 Johan den Dunnen
00418914 Pat9 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD induced delivery a few days past term Inhaled amniotic fluid, Agpar score low-normal, In incubator for 48 hours and 24 hours under light therapy for jaundice; birth 40w5d, length 51cm, weight 3800g; weight 31kg (P19), height 142cm (P25), OFC 53.5cm (P26); delayed motor mevelopment; delayed hand skills; delayed language development and echolalia for first 4 years, practically nonverbal since then; 4y-regression; language regression; 9y-motor regression, possibly caused by epilepsy and epileptic medications; severe intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; overly and inappropriately social, inappropriate spells of delirious laughter; very high sensory needs (seeks movement and noise/music); stereotypies ataxia; hypotonia; 9y-epilepsy, focal (frontal), good control with VPA+CLB; EEG spike-wave generalized, parietal spikes (right), slow Background; MRI hyppocampal assimetry (left smaller, effacement of the gray-white matter differentiation), mild periventricular WM HI, mild cerebral and cerebellar atrophy, ventricular dilatation, thin corpus callosum; folate deficiency; strabismus, nystagmus (10y); normal hearing; easy bruising, sensitive skin, erythromelalgia; normal shape face; long thick eyelashes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; joint laxity; slightly large hands, soft and brittle nails; no Marfanoid habitus; no heart/aorta defects; food intolerances, gastroesophageal reflux; no endocrine dysfunction; normal breathing; bruxism; difficulty falling asleep, less sleep than normal, needs amount of sleep to be controlled otherwise will wake up during night or early morning; peripheral vasomotor disturbances (erythromelalgia); diminished pain response; no intense eye communication; no genital malformations; 1 1 Johan den Dunnen
00418915 Pat10 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD pregnancy hyperemesis; birth 41w, weight 3260g; weight 89.8 kg, height 166cm, OFC 57.5cm; delayed motor mevelopment, normal gait; delayed hand skills; severely delayed language development; no regression; no language regression; no motor regression; severe intellectual disability; anxiety; obsessed with football and jigsaw puzzles repetitive behaviours; no abnormal movements; normal muscle tone; epilepsy, generalized; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; 1 1 Johan den Dunnen
00418916 Pat11 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD pregnancy induced with ovarian stimulation, Caesarean section due to altered cardiotocography and hyperpyrexia during labor; birth 40w, length 51cm (p50-75), weight 3830g (p90-97), OFC 35cm (p75); weight 40kg (P50), height 152,5cm (P50), OFC 52cm (P50); delayed motor mevelopment, normal gait; delayed hand skills; delayed language development (incomplete phoneme development, articulation impairment); no regression; no language regression; no motor regression; severe intellectual disability, IS <40; no autism; no anxiety; attention deficit hyperactivity disorder; withdrawn behavior; no abnormal movements; normal muscle tone; 6y-epilepsy, febrile seizures, good control with VPA; EEG focal (sleep); MRI normal; strabismus (alternating exotropia) astigmatism; normal hearing; normal skin; high forehead; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418917 Pat12 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD pregnancy abnormal triple screening, normal amniocentesis, neonatal cephalohematoma; birth 39w, length 58.4cm, weight 4053g; weight 95.4kg (P95), height 179.4cm (P64), OFC 59cm (P>98); delayed motor mevelopment, motor coordination poor, 14y-motor deterioration, consistent with catatonia at that time movements were generally slow; normal hand skills; conversational language, dysprosody; Behavioural deterioration. Catatonia (14y) (improved with electroconvulsive therapy) Increased apetite; language regression; motor regression; learning disorder, significantly scattered cognitive abilities, WISC-IV VCI 65 PRI 51 WMI 80 PSI 73fFull scale 58 (at age 10y); autism; no anxiety; attention deficit hyperactivity disorder; motor and phonic tics catatonia at age 14 (electroconvulsive therapy was applied, with improvement) increased appetite; apraxia in some movements tremor stereotypies tics; normal muscle tone; no epilepsy; EEG normal; MRI normal; no ophthalmological anomalies; normal hearing; facial acne; macrocephaly; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus (but slender body); no heart/aorta defects; Episodic vomiting (2-3 episodes)e; no endocrine dysfunction; hyperactive airway disease; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; umbilical hernia; no genital malformations; recurrent otitis media, resolved with PE placement 1 1 Johan den Dunnen
00418918 Pat13 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth 40w, length 53cm, weight 4100g, OFC 35cm; weight 87kg (P93), height 176cm (P50), OFC 56cm (P45); 21m-delayed motor mevelopment; delayed hand skills, even adult use fork differently than normal; delayed language development, 8-9y first words, currently do not produce normal sentences; no regression; no language regression; no motor regression; moderate intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; aggressiveness; no abnormal movements; hypotonia; no epilepsy; normal hearing; dry skin, especially hair; long face; deep-set eyes; long, thin and pronounced nasal ridge; short philtrum; normal mouth; normal chin; small low-set ears; no skeletal manifestations; tapered fingers, left single palmar crease; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems (27y-apart frequent nocturnal awakenings during several months); no peripheral vasomotor disturbances; diminished pain response; intense eye communication; chronic fatigue; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418919 Pat14 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth 39w; delayed motor mevelopment; 6m-3y-regression; motor regression (hand skills); DQ=60; 6m-epilepsy, infantile spasms; EEG hypsarrythmia; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal philtrum; normal chin; normal ears; no skeletal manifestations; no bruxism; sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; 1 1 Johan den Dunnen
00418920 ?/Pat15 PubMed: Xing 2016, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 analysis 562 cases (370 schizophrenia and 192 autism spectrum disorders); 2-generation family, affected mother/daughter F - - - - - - - NDD normal pregnancy; normal motor mevelopment; delayed language development; regression; 2y-language regression; autism; 1 1 Johan den Dunnen
00418921 Pat16 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth 40w, length 53.3cm, weight 3800g; weight 34.4kg (P13), height 154cm (P66), OFC 55 (10y)(p75); delayed motor mevelopment; delayed hand skills; delayed language development, 2y-2-word phrases but slower progression after that time; no regression; mild intellectual disability, SON-IQ 55 (5y), K-ABC IQ 50 (6y), K-ABC IQ57 (7y); episodes of whole body shaking; normal muscle tone; epilepsy, focal; EEG focal (centro-parietal, left); MRI normal; no ophthalmological anomalies; normal hearing; hypertelorism; promiment ears; bicuspid aortic valve with good function; one café-au-lait macule; 1 1 Johan den Dunnen
00418922 Pat17 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth 41w, length 53cm, weight 3330g, OFC 36cm; weight 19.2kg (P3), height 122cm (P25), OFC 51(p25); mildly delayed motor mevelopment, unstable gait; delayed language development, short sentences, nasal speech, slurred pronunciation; no regression; no language regression; no motor regression; moderate intellectual disability; no autism; no anxiety; attention deficit hyperactivity disorder; easily overstrained by too many external stimuli, played rather on his own in infancy; no abnormal movements; hypotonia; no epilepsy; EEG centro-central focal sharp waves/rolandic spikes (10y) normal; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; long face; midly deep-set eyes, mild epicanthus, long eyelashes; normal nose; relatively long philtrum; full lips; mild retrognathia; normal ears; joint laxity; fetal finger pads; no Marfanoid habitus; no heart/aorta defects; vomiting when too little sleep; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no intense eye communication; no genital malformations; infection tendency infancy 1 1 Johan den Dunnen
00418923 Pat18 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD weight normal, height normal; normal language development; mild intellectual disability; autism; tantrums; no epilepsy; hypertelorism; broad nasal bridge upturned; short philtrum; full lips; 1 1 Johan den Dunnen
00418924 Pat19 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD Caesarean section because of breech; birth 38w3d, weight 3250g; weight normal, height P25, OFC p75; delayed motor mevelopment; delayed language development; VIQ=91, PIQ=70; easily overstimulated; normal muscle tone; no epilepsy; EEG focal (centro-parietal; right); MRI normal; cortical blindness; full cheeks; hypertelorism short palpebral fissures deep-set eyes downslanting palpebral fissures; short philtrum; full lips tented lip; short, broad hands, dysmorphic fingers, short toes with small nails; 1 1 Johan den Dunnen
00418925 747/Pat20 PubMed: Lelieveld 2016, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD normal pregnancy; birth 40w2d, weight 3780g; weight 33.2kg (P>99), height 137.6cm, OFC 54cm; delayed motor mevelopment, 2y6m-walk on knees, currently can walk; delayed hand skills; delayed language development; no regression; moderate intellectual disability,IQ 45, functions at level 2-3y old child; autism; anxiety (panics when the place of things change or when food is different); no attention deficit hyperactivity disorder; OCD; no abnormal movements; hypotonia; 9y-epilepsy; MRI large perivascular space (left frontal); myopia; normal hearing; normal skin; normal shape face; long eyelashes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; scoliosis joint laxity; 2cm difference in feet length; no Marfanoid habitus; functionally and structurally normal heart; hyperemesis (almost 1x per month), obstipation, not toilet-trained; menstruation since last week; normal breathing; sleep problems, wakes up during night and for her the day starts when she wakes up, with adjustment of Depakin is now better; diminished pain response; no intense eye communication; large tonsils; no genital malformations; 1 1 Johan den Dunnen
00418926 Pat21 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier mother M - - - - - - - NDD normal pregnancy; birth 40w, length 51cm, weight 3630g, OFC 35cm; weight 23kg, height 122cm, OFC 52cm; delayed motor mevelopment; delayed language development (only few words); no regression; moderate intellectual disability; autism; attention deficit hyperactivity disorder; no abnormal movements; normal muscle tone; no epilepsy; no skeletal manifestations; no Marfanoid habitus; no peripheral vasomotor disturbances; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418927 Pat22 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth 38w3d, weight 3600g; weight 36kg (P5-10), height 155cm (P75), OFC 54.8cm (P70); early motor milestones normal, 12-15m-walk, 3y-motor decline; 1y/3y-ew single words, 3y-regression, currently nonverbal; 3y-regression; language regression; motor regression; severe intellectual disability; autism; no anxiety; no attention deficit hyperactivity disorder; no abnormal movements; normal muscle tone; no epilepsy; no ophthalmological anomalies; normal hearing; skin several hyperpigmentations back and legs; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; pectus anomaly joint laxity; long fingers and toes; Marfanoid habitus; no heart/aorta defects; constipation; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, difficulty falling asleep, treated with melatonin; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418928 ?/Pat23 PubMed: Xing 2016, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected parents - - - - - - - - NDD ; 1 1 Johan den Dunnen
00418930 Pat25 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD delayed motor mevelopment; delayed hand skills; delayed language development; no regression; no language regression; no motor regression; autism; no anxiety; no attention deficit hyperactivity disorder; self injurious behavior; no abnormal movements; hypotonia; no epilepsy; MRI normal; strabismus; joint laxity; no Marfanoid habitus; 1 1 Johan den Dunnen
00418931 Pat26 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD pregnancy maternal bladder infection requiring antibiotics, mild meconium aspiration, Caesarean section; birth 38w, length 55.8cm, weight 4.366g; weight 26.4kg (P50), height 124.5cm (P33), OFC 51.5cm (P50); delayed motor mevelopment, normal gait; delayed hand skills; delayed language development, vocalizes currently uses augmentative devices; no regression; no language regression; no motor regression; moderate intellectual disability; autism; no anxiety; attention deficit hyperactivity disorder; behavioral outburst with frustration (can be physical); no abnormal movements; hypotonia; 6m-epilepsy, good control under AED+KGD; EEG focal (temporal-parietal, bilateral), multifocal spikes, sharp and slow waves, intermittent burst-suppression pattern; MRI mild frontotemporal cortico-subcortical atrophy with enlarged anterior peripheral liquor spaces, dysmorphic corpus callosum; no ophthalmological anomalies; normal hearing; normal skin; no skeletal manifestations; normal hands/feet; no heart/aorta defects (normal ultrasound); feeding difficulties when younger; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, needs parents to fall and stay asleep; no peripheral vasomotor disturbances; no intense eye communication; mother history of anxiety; frequent URIs - negative Immune evaluation reported; some feeding difficulties and aspiration of thin liquids during infancy; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418932 706/Pat27 PubMed: Lelieveld 2016, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD normal pregnancy; birth 40w2d, weight 3500g; weight 34kg, height 147.7cm, OFC 53cm (P50); delayed motor mevelopment, normal gait; delayed hand skills; normal language development; no regression; no language regression; no motor regression; moderate intellectual disability, IQ 40; no autism; no anxiety; attention deficit hyperactivity disorder; social; no abnormal movements; normal muscle tone; no epilepsy; EEG normal; MRI normal; strabismus (exotropia); difficulties with depth perception; normal hearing; normal skin; normal shape face; fine eyebrows; normal nose; normal philtrum; normal mouth; normal chin; normal ears; kyphosis pes plano valgus joint laxity; fetal finger pads; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; diminished pain response; no intense eye communication; dyspraxia; 9y-transient immune trombocytepenia; no genital malformations; ear infections 1 1 Johan den Dunnen
00418933 Pat28 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth 39w1d, length 51cm (p60), weight 3360g (p35); weight 31.5kg (P35), height 147cm (P93), OFC 55.2cm (P90); delayed motor mevelopment, delayed gait, 22m-walk, needs splints for short Achilles tendons; delayed hand skills; delayed language development, 3y-2-word sentences; no regression; mild intellectual disability, PIQ 54-74; TBQ 68; no autism; no anxiety; attention deficit hyperactivity disorder; tantrums; no abnormal movements; normal muscle tone; no epilepsy; MRI frontotemporal cortico-subcortical atrophy with enlarged anterior peripheral liquor spaces, thin corpus callosum (anterior predominance); no ophthalmological anomalies; normal hearing; normal skin; high forehead; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; sandal gap; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; 9y-toe walking (persistent); no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418934 Pat29 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD pregnancy oligohydramnios; birth 39w, length 49cm (p40), weight 2650g (p8), OFC 33cm (p20); weight 88kg (>p99), height 171cm (P87), OFC 58cm (P96); delayed motor mevelopment, 2,5y-walk, motor decline last year, still walking; impaired hand skills, some regression in young adulthood; delayed language development, echolalia; 18y-regression; no language regression; motor regression; severe intellectual disability, IQ 20; autism; no anxiety; attention deficit hyperactivity disorder; psychotic episodes (12y and 13y) repetitive behaviours; stereotypies; hypotonia; epilepsy; amblyopia; normal hearing; normal skin; round mild brachycephalic; deep-set eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; scoliosis; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418935 Pat30 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD normal pregnancy; birth 41w, length normalcm, weight normal, OFC normal; weight 58kg, height 158cm, OFC 55.3cm; delayed motor mevelopment, normal gait; delayed hand skills; delayed language developmen, 6y-first words; no regression; moderate intellectual disability, WISC III (at 8y) QIV 61, QIP 51, QIT 51; no autism; anxiety; no attention deficit hyperactivity disorder; withdrawn behavior; no abnormal movements; normal muscle tone; no epilepsy; EEG normal; MRI vermis atrophy; no ophthalmological anomalies; normal hearing; recurrent severe acne; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; bilateral cubitus valgus; short finger; no Marfanoid habitus; episodic vomiting; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; urinary infections (1st year) 1 1 Johan den Dunnen
00418936 Pat31 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD normal pregnancy; birth 40w, length 50cm, weight 3320g; weight <p3, height <p3, OFC <p3; delayed motor mevelopment, no ambulation; regression hand skills, 10m-loss of hand proposal movements; delayed language development, currently nonverbal; 6m-3y-regression; no language regression; motor regression (hand skills); severe intellectual disability; no autism; anxiety; no attention deficit hyperactivity disorder; inappropriate laughing/screaming spells; stereotypies (hand to mouth and clapping) dystonia; dystonia; 1y-epilepsy, absences, GTCS; EEG abnormal (sleep); no ophthalmological anomalies; normal hearing; normal skin; long face; normal eyes; large nose; normal philtrum; normal mouth; normal chin; normal ears; scoliosis; small; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; hyperventilation, breath holds; no bruxism; Yes; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418937 Pat32 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth 40w, length 52cm, weight 3370g, OFC 35cm; weight 17.5kg (P10-25), height 116.5cm (P75-90), OFC 50cm (P10-25); delayed motor mevelopment; delayed hand skills; delayed language development, 4y-2 word sentences; no regression; mild intellectual disability (IQ too young); no autism; no anxiety; attention deficit hyperactivity disorder; easily frustrated, frequent use of dirty words repetitive behaviours; stereotypies (hand in underpants) ataxia; hypotonia; 13m-epilepsy, febrile seizures (one episode); EEG normal; strabismus (exotropia); normal hearing; normal skin; high forehead; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; large ears; no skeletal manifestations; pes planovalgus; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; BMI 12.9 (<3 %; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418938 Pat33 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, affected brothers, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth 40w, length 53cm, weight 3840g; weight 72.2kg (P75-90), height 163.3cm (P10), OFC 57.5cm (P75-90); delayed motor mevelopment, 8-9m-sit, 12m-crawl, 17m-walk, walks slowly with arms flexed; delayed language development, 2y-regression, currently nonverbal; 2y-regression; language regression; no motor regression; severe intellectual disability; autism; attention deficit hyperactivity disorder; impulsive; no abnormal movements; hypotonia; 5y-epilepsy, absences, GTCS, drop attacks Refractory to AED and VNS; MRI biparietal periatrial deep white matter T2 hyperintense; OXPHOS mild CI and CIII activity decrease, borderline low CSF 5-MTHF; no ophthalmological anomalies; normal hearing; normal skin; broad facial; medial eyebrow flare; upturned tip; normal philtrum; full lower lip overbite; receded chin; normal ears; no skeletal manifestations; broad hands, mild bilateral 5th finger, clinodactyly, pes planus (marked planovalgus one foot); no Marfanoid habitus; no gastrointestinal manifestations; normal breathing; no bruxism; difficulty falling asleep and staying asleep; no peripheral vasomotor disturbances; no intense eye communication; no genital malformations; no infection tendency 1 2 Johan den Dunnen
00418939 Pat34 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 brother M - - - - - - - NDD normal pregnancy; birth at term; weight 48.9kg (P<3), height 170.4cm (P25), OFC 55cm (P10-25); mildly delayed motor mevelopment, mild, 18m-walk; delayed language development, 22m-regression, ccurrently verbal but has diagnosis of selective mutism; 22m-regression; language regression; no motor regression; moderate intellectual disability; autism; anxiety; no attention deficit hyperactivity disorder; behavioral outbursts; no abnormal movements; hypotonia; 7y-epilepsy, focal (centro-temporal); MRI normal; no ophthalmological anomalies; normal hearing; normal skin; long face; epicanthal folds partial unilateral iris heterochromia; prominent tip and columella; short philtrum; normal mouth; receded chin; normal ears; scoliosis; unilateral 5th finger, clinodactyly, unilateral 2-3 toe syndactyly; no Marfanoid habitus (but slender body); no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418940 Pat35 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal language development; mild intellectual disability; anxiety; MRI normal; cortical blindness; 1 1 Johan den Dunnen
00418941 Pat36 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD normal pregnancy; birth 40w, length 53cm, weight 3640g, OFC 35cm; weight 22.4kg (P30), height 117.5cm (P10), OFC 52cm (P60); delayed motor mevelopment, frequent stumbling; delayed hand skills; delayed language development; no regression; moderate intellectual disability, IQ 53 (WPPSI-III); no autism; anxiety; tantrum; stereotypies (left hand); normal muscle tone; 10y-epilepsy; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; broad nasal tip; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; patent ductus arteriosus, small atrial septal defect; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418942 Pat37 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD weight 84.4kg (P>99), height 164cm (P15), OFC 55cm; ; moderate intellectual disability; autism; depression and agressive outbursts; bipolar disorder; EEG abnormal; MRI normal; high forehead; short palpebral fissures; long columella; thin upper lip; 1 1 Johan den Dunnen
00418943 Pat38 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth 39w, weight 3140g, OFC 34cm; weight 14.8kg (P25-50), height 99.5cm (P50-75), OFC 53cm (P98); delayed motor mevelopment,26m-walked, waddling gait, very unsteady for several months; delayed hand skills; delayed language development, few single words, currently nonverbal; Yes; language regression; no motor regression; autism; hyperactive sensitive to high-pitched noises loves playing with water head banging to fall asleep; no abnormal movements; hypotonia; no epilepsy; MRI incomplete inversion left hippocampus, asymmetric dilatation lateral ventricles, white matter volume loss, thin corpus callosum; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; high arched palate; normal chin; normal ears; joint laxity; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; allergy to legumes; no genital malformations; 1 1 Johan den Dunnen
00418944 Pat39 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD normal pregnancy; birth at term, weight 4649g; weight 79kg (P90-95), height 175.6cm (P97), OFC 59cm (P>98); delayed motor mevelopment, 30m-walk, uncoordinated with wide based gait; delayed hand skills, can write name but not well; delayed language developmen, 3y-started talking, now short phrases, dysarthric speech, functioning at preschool level; no regression; no language regression; no motor regression; mild-moderate intellectual disability; no autism; anxiety; no attention deficit hyperactivity disorder; social; ataxia; hypotonia; 7y-epilepsy, focal, refractory; EEG-18y-vertex/right central sharp wave discharges, partial seizures with vertex/central onset (20y), diffuse background slowing and excessive beta activity for age; MRI bilateral polymicrogyria (parieto-occipital), cerebellar>cerebral atrophy;; no ophthalmological anomalies; normal hearing; normal skin; broad forehead; slightly wide spaced eyes; small upturned nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418945 095574/Pat40 PubMed: Baker 2019, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - NDD pregnancy sdvanced maternal age (36y), preterm contractions; birth 39w, length 48,26cm, weight 3487g, OFC small; weight 47.4kg (P50), height 162.5cm (P71), OFC 53.5cm (P44); significantly delayed motor development, level of functioning 3-6 year old level, uncordinated gait; delayed hand skills; everely impaired language development (VIQ = 47), currently at a 5y level; 12m-regression; language regression; motor regression; severe intellectual disability, IQ severely impaired range (FSIQ=42); no autism; no anxiety; attention deficit hyperactivity disorder; tics; hypotonia; 4m-epilepsy (ACTH treatment), focal; EEG-4m-hypsarrhythmia (13y), parasagittal multifocal spike discharges, especially activated with sleep; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; pointed chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; Celiac disease. Cyclic Vomiting. Gastrostomy; no endocrine dysfunction; normal breathing; no bruxism; sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; motor tics; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418947 Pat42 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD normal pregnancy; birth 41w, length 51,5cm, weight 3480g, OFC 35cm; weight 50,4kg (P49), height 148cm (P7), OFC 53,5cm (P14); delayed motor mevelopment, normal gait; no hand skills; delayed language development; no regression; severe intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; agressive and self-injurious behavior, trichotillomania, pica, bruxism repetitive behaviours; stereotypies; normal muscle tone; <2y-epilepsy; EEG focal (frontal slow waves); MRI normal; strabismus hyperopia; normal hearing; normal skin; flat midface; globular eyes; long columella bulbous nose; everted lower lip; flat chin; no skeletal manifestations; long and thin fingers; no heart/aorta defects; Constipation since birth; no endocrine dysfunction; normal breathing; bruxism; sleep disturbances; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; 2 cafe-au-lait spots; no genital malformations; 1 1 Johan den Dunnen
00418948 Pat43 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD normal pregnancy; birth 38w, weight 3500g; weight 28.9kg (P1), height 138cm (p1), OFC 7y-55cm (p>99); delayed motor mevelopment; delayed hand skills; progressive delayed language development; regression; motor regression (motor clumsiness, imbalance episodes); mild intellectual disability; attention deficit hyperactivity disorder; mild behaviour problems; ataxia, dysmetria spastic-dystonic tetraparesis; spastic-dystonic tetraparesis; epilepsy, focal; EEG multifocal (frontocentral-temporal bilateral) Slow background; MRI incomplete inversion left hippocamus, dysmorphic temporal horn (ipsilateral), MRI normal spectroscopy; mildly increase of beta cholestanol; CSF mild increase in HVA-5HIIA; slow upgaze vertical saccades and visuospatial difficulties; normal hearing; mild scoliosis; no heart/aorta defects; no sleep problems; dysarthria; dysphagia; ocasional enuresis and encopresis; 1 1 Johan den Dunnen
00418949 Pat44 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD pregnancy decreased active fetal movement; birth 41w5d, length 57cm, weight 3799g; weight 54.7kg, height 167.1cm, OFC 55.6cm; delayed motor mevelopment, unstable gait; delayed hand skills; delayed language development, short sentencess severe echolalia; 7y-regression; language regression; motor regression (clumsiness, frequent falls, hand skills); moderate intellectual disability; autism; anxiety; period of hearing voices; stereotypies (hands, sucking, chewing lower lip) tremors; hypotonia; 8y-epilepsy, focal, refractory; EEG abnormal; MRI normal; loss of peripheral fields tracking difficulties; normal hearing; normal skin; prominent jaw; deep-set eyes; underdeveloped alae nasi; short philtrum; thin upper lip small uvula; prognathism; normal ears; mild scoliosis joint laxity; long and thin fingers pes planus; Marfanoid habitus; no heart/aorta defects; episodic vomiting; PCOS: acne, hirsute, hypothyroid, low Na+, increased testosterone; hyperventelation and sleep apena; difficulty getting and staying asleep; peripheral vasomotor disturbances, "ice cold hands and feet; diminished pain response; no intense eye communication; no genital malformations; 1 1 Johan den Dunnen
00418950 Pat45 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD normal pregnancy; birth length 53cm, weight 3680g, OFC 36cm; weight 17kg (P90-97), height 92cm (P50), OFC 44cm (P1); severely delayed motor mevelopment, Bayley Scales II: 51, mouth frequently open, poor hand-eye coordination, ataxic gait, frequent falls; normal hand skills; delayed language development (receptive and expressive), echolalia; no regression; too young to estimate intellectual disability; anxiety (panic attacks at night); ataxia; hypotonia; no epilepsy; EEG normal; no ophthalmological anomalies; normal hearing; normal skin; high forehead; normal eyes; normal nose; normal philtrum; large mouth and tonge; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; fragmented sleep, difficulty falling asleep, frequent wake up; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418952 Pat47 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD IVF, dizygotic twins, unaffected twin sister; pregnancy decreased active fetal movement; birth 35w, length 46cm, weight 2450g, OFC 33cm; weight p<1, height p55, OFC p8; delayed motor mevelopment, 2y6m-walk, tendency to stumble, impaired balance, somewhat apractic gait in between normal gait; delayed hand skills, can use a spoon, but prefers just eating with hands; delayed language development, currently few words; no regression; severe intellectual disability; no autism; anxiety (panics when exposed to loud sounds); no attention deficit hyperactivity disorder; inapropriately contact seeking and trustful, happy, smiling, laughing. hyperactive. repetitive behaviours; stereotypies (hand flapping during childhood) ataxia; hypotonia; no epilepsy; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; broad forhead; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; no Marfanoid habitus (but slender body); no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no sleep problems; no peripheral vasomotor disturbances; intense eye communication; teeth enamel defect on several teet, normal shape on teeth, but disorderly placed; skin/eyes very faired; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418953 ZH50527/Pat48 PubMed: Rauch 2012, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD normal pregnancy; birth 39w2d, length 52cm, weight 3770g; weight 52kg, height 180cm, OFC 9y-53cm )(p47); delayed motor mevelopment, uncoordinated gait; imparied hand skills, finger flapping in childhood, dystonic; delayed language development, currently nonverbal; no regression; severe intellectual disability, IQ 30; no autism; no anxiety; attention deficit hyperactivity disorder; very happy, distanceless, attention seeking; stereotypies (finger flapping) ataxia (truncal) dystonia; hypotonia (oral, drooling) dystonia; 5y-epilepsy, myoclonic-astatic, atypical absences, refractory; EEG multifocal, slow background; MRI mild delayed myelination, MRS reduced cholin concentration; no ophthalmological anomalies; normal hearing; dry skin; long face; normal eyes; long columella; short philtrum; full lips diastema; normal chin; large ears; joint laxity; fetal finger pads; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; cold extremities, palms easyly red; diminished pain response; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418954 Pat49 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD birth 39w, weight 3450g; weight height 140cm (P18); moderate intellectual disability; anxiety; EEG normal; MRI 16m-delayed myelination (7y-normal); cortical blindness; 1 1 Johan den Dunnen
00418955 Pat50 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD delayed motor mevelopment; delayed hand skills; delayed language development; no regression; no language regression; no motor regression; moderate intellectual disability; no autism; no anxiety; no attention deficit hyperactivity disorder; happy, affable, obsessive behaviour; no abnormal movements; normal muscle tone; 6.5y-epilepsy, focal; EEG abnormal; MRI normal; hyperopia; skeletal manifestations; Marfanoid habitus; 1 1 Johan den Dunnen
00418956 Pat51 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD pregnancy decreased active fetal movement, umbilical cord knot x3; birth 39w, length 49.5cm, weight 3203; weight 23.6kg (P15), height 128cm (P27), OFC 52cm (P24); delayed motor mevelopment, normal gait; delayed hand skills; delayed language development; 8y-regression; mild intellectual disability, 9y-WISC-V FSIQ=68, 10y-on ADHD medications FSI =84 with visual spatial 67 and processing 69; no autism; anxiety; attention deficit hyperactivity disorder; onset of phobias dyspraxia, non-verbal learning disability, social communication disorder; no abnormal movements; hypotonia (oral, drooling); no epilepsy; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; wide nasal ridge, bulbous nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; abdominal migraines with emesis (now in remission ) with cyproheptadine; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00418957 Pat52 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD normal pregnancy; birth at term, length 50.8cm, weight 3400; weight 22.3kg (P3-10), height 122.5 cm (P3-10), OFC 52cm (P50-75); delayed motor mevelopment, normal gait; delayed hand skills; normal language development; no regression; intellectual disability; autism; no anxiety; attention deficit hyperactivity disorder; no abnormal movements; normal muscle tone; 7y-epilepsy, focal (facial/leg twitching), ESES, good control with AED; EEG multifocal and generalized ESES; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; syndactyly of the 2nd, 3th and 4th toes bilaterally; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; 1 1 Johan den Dunnen
00418958 Pat53 PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD pregnancy nuchal cord x 3; birth 39w1d, length 54.5cm, weight 3410, OFC 36cm; weight 20kg (P49), height 113cm (P25), OFC 53.5cm (P88); delayed motor mevelopment, unstable, uncoordinated gait; delayed hand skills, 2y-regression; delayed language development, currently nonverbal; 2-5y-regression; language regression; fine motor regression; severe intellectual disability; autism; no anxiety; no attention deficit hyperactivity disorder; excessive jumping, clapping when excited; stereotypies (hands) ataxia; hypotonia; 2y-epilepsy, GTCS during sleep, absences. ESES Refractory to AED, ivIG and VNS; EEG multifocal spikes-waves ESES; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; Advanced sleep phase syndrome (circadian sleep disorder). He typically wakes very early for the day (often 3 - 4 a.m.). Periodic limb movement disorder on PSG (PLMS index of 26.3/hr); no peripheral vasomotor disturbances; intense eye communication; no intense eye communication; 3y-Henoch–Schönlein purpura; no genital malformations; no infection tendency 1 1 Johan den Dunnen
00427820 163126 - - M no Germany - - - - - MRD62 Global developmental delay, Flat midface, Deep set ears rotated backwards, Prominent incisors 1 1 Andreas Laner
00436674 269120 - - M ? ? (unknown) - - - - - MRD62 Neurodevelopmental abnormality, Intellectual disability 1 1 Andreas Laner
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