All individuals with variants in gene TNRC6B

19 entries on 1 page. Showing entries 1 - 19.
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00275875 Pat15 PubMed: Eising 2018 analysis 19 individuals with childhood apraxia of speech F - - - - - - - SPCH childhood apraxia of speech; late onset language use; no listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores not <85; gross or fine motor impairment; oral nonverbal motor impairment; no dysarthria 1 1 Johan den Dunnen
00311383 Pat1 PubMed: Granadillo 2020 - M - - white - - - - NDD birth weight normal, length normal; normal height, normal weight, OFC 2.05; developmental delay/intellectual disability; gross motor delay, fine motor delay; speech delay, 2y-first words; poor socialization, attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; abnormal eye convergence, saccadic eye movements, congenital entropion; no musculoskeletal anomalies; normal skin; normal face, frontal bossing, normal eyes, normal ears, normal nose, thin upper lip; no gastrointestinal problems; MRI brain Chiari Type 1 malformation, flattening of anterior pituitary; ECG patent foramen ovale, dilated aortic root (z-score=2.4); EKG RV conduction delay; mother is “low functioning”, father has intellectual disability 1 1 Johan den Dunnen
00311384 Pat2 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - NDD birth weight normal, length normal; normal height, normal weight, OFC -1.58; developmental delay/intellectual disability; no gross motor delay, no fine motor delay; speech delay; autism, attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; normal vision; no musculoskeletal anomalies; triangular face, normal forehead, normal eyes, normal ears, normal nose, micrognathia; no gastrointestinal problems; no family history 1 1 Johan den Dunnen
00311385 Pat3 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - NDD birth weight normal; normal height, normal weight, OFC -1.3; developmental delay/intellectual disability; no gross motor delay, no fine motor delay; speech delay; autism, attention deficit hyperactivity disorder; no hypotonia; short sleeping time, restless sleep; no hearing loss; normal vision; no musculoskeletal anomalies; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain right temporal arachnoid cyst; no family history 1 1 Johan den Dunnen
00311386 Pat4 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - NDD birth weight normal; height >2 SD, normal weight, OFC 1.76; developmental delay/intellectual disability, IQ73, DQ76, non verbal-95; gross motor delay, fine motor delay, walk-12m; speech delay, 1y-first words; autistic features, attention deficit hyperactivity disorder, anxiety, ddepression, behavioral difficulties; hypotonia; daytime sleepiness, poor sleep; bilateral high-frequency sensorineural hearing loss; strabismus, esotropia; slender fingers, lanky buildpiuh, hypermobility elbows; skin lichen sclerosus; slightly narrow and long face, normal forehead, normal eyes, normal ears, normal nose, microretrognathia; no gastrointestinal problems; MRI brain Chiari Type 1 malformation; ECG normal; renal ultrasound normal; chronic otitis media, obstructive sleep apnea (s/p T&A); intermittent staring spells (normal EEG); no family history 1 1 Johan den Dunnen
00311387 Pat5 PubMed: Granadillo 2020 2-generation family, affected father/son M - - white - - - - NDD birth weight 2.44 Kg (5th %ile), length normal, OFC 30 cm (<2.5th%ile); normal height, normal weight, OFC -4.26; developmental delay/intellectual disability, 4y10m-developmental age 20m; gross motor delay, fine motor delay, walk-36m; speech delay; autistic features, no attention deficit hyperactivity disorder, aggressiveness; hypotonia; no sleep problems; bilateral sensorineural hearing loss reverse cookie bitepattern; intermittent esotropia; no musculoskeletal anomalies; triangular face, prominent and broad forehead, prominent glabella, upswept frontal hairline, downslanting palpebral fissures, arched eyebrows, bilateral epicanthal folds, small ears, posteriorly rotated ears, low set ears, anteverted nares with broad and rounded tip, broad and high nasal bridge, micrognathia, thin upper lip, narrow palate with torus; GERD, aspiration, GT placed, constipation, dysphagia; MRI brain normal; ECG atrial septal defect, PDA, polyvalvular dysplasia, hypoplastic abdominal aorta, abnormal origin R coronary artery; renal ultrasound small L nephrolithiasis, mild R pelvicaliectasis; inguinal hernia, hydrocele, sacral dimple, torticollis; both parent have intellectual disability, father has similar facial features 1 2 Johan den Dunnen
00311388 Pat6 PubMed: Granadillo 2020 2-generation family, affected mother/son M - - - - - - - NDD birth weight normal, length normal; normal height, normal weight, OFC 2.7; developmental delay/intellectual disability, IQ97; gross motor delay, fine motor delay; speech delay; autism, attention deficit hyperactivity disorder, oppositional defiant disorder; hypotonia; sleep problems; no hearing loss; normal vision; small joint hypermobility; strawberry hemangioma on right knee (now resolved); mild facial asymmetry, normal forehead, slightly downslanting palpebral fissures, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; mother, maternal aunt and maternal grandmother have short stature, ophthalmoplegia, diabetes, sensorineural hearing loss, learning problems, mother has seizures, maternal aternal uncle with hydrocephalus, sister with ID and hypotonia, paternal half-sister with ADHD 1 2 Johan den Dunnen
00311389 Pat7 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - NDD birth weight normal, length normal, OFC normal; normal height, normal weight, OFC 0; developmental delay/intellectual disability, VIQ105, PIQ85; gross motor delay, fine motor delay, walk-24m; speech delay, 3y-first words; autism, attention deficit hyperactivity disorder; hypotonia; sleep problems; no hearing loss; myopia; joint hypermobility; normal skin; midface flattening, normal forehead, normal eyes, protruding ears, anteverted nares, mild micrognathia, long philtrum, thin upper lip, high palate; no gastrointestinal problems; MRI brain normal; benign nocturnal alternating hemiplegia of childhood; parents healthy, grandmother has migraine headaches 1 1 Johan den Dunnen
00311390 Pat8 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - NDD birth weight normal, length normal, OFC normal; normal height, normal weight, OFC -1; developmental delay/intellectual disability, TIQ63 (VIQ70, PIQ61); gross motor delay, fine motor delay, walk-16m; speech delay, 1y-first words; autistic features, attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; normal vision; Sprengel anomaly; normal skin; normal face, normal forehead, deep set eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; SCAD deficiency 1 1 Johan den Dunnen
00311391 Pat9 PubMed: Granadillo 2020 - M - - white - - - - NDD birth weight 2.45 Kg (<3rd %ile), length normal; normal height, normal weight, OFC 1.63; developmental delay/intellectual disability, TIQ 73 (VIQ82; PIQ 68); gross motor delay, fine motor delay, walk-30m; speech delay, 2y9m-first words; autism, no attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; myopia; recurrent patella subluxation billaterally; normal skin; normal face, normal forehead, downslanting palpebral fissures, low set ears, anteverted nares, mildly low insertion columella, normal mouth; no gastrointestinal problems; MRI brain normal; left supernumerary nipple 1 1 Johan den Dunnen
00311392 Pat10 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - NDD birth weight normal; normal height, normal weight, OFC -2.33; developmental delay/intellectual disability, IQ72 (VIQ78, PIQ 71); gross motor delay, fine motor delay, walk-18m; no speech delay; autism, no attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; myopia; pes planus; hypergimentary lesions on wrist and upper leg; normal face, normal forehead, normal eyes, “Floppy” ears, normal nose, thin upper lip; no gastrointestinal problems; left supernumerary nipple; recurrent ear infections; paternal female cousin with Noonan syndrome 1 1 Johan den Dunnen
00311393 Pat11 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - NDD birth weight normal, length normal; normal height, normal weight, OFC 0.8; developmental delay/intellectual disability, TIQ 55; gross motor delay, fine motor delay, walk-18m; speech delay, 4y-first words in sentences; no autism, no attention deficit hyperactivity disorder, Impulsivity; no hypotonia; no sleep problems; no hearing loss; normal vision; muscle weakness; normal skin; midface flattening, normal forehead, downslanting palpebral fissures, normal ears, normal nose, thin upper lip; no gastrointestinal problems; MRI brain left temporal arachnoid cyst, hypoplasia of left temporal horn, mild frontal atrophy, left ventricle larger than right ventricle; ECG normal; renal ultrasound normal; hypereflexia 1 1 Johan den Dunnen
00311394 Pat12 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China Han chinese - - - - NDD birth weight normal; normal height, OFC -1.33; developmental delay/intellectual disability, DQ 53; gross motor delay, fine motor delay, n/a; speech delay; autism, no attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; normal vision; no musculoskeletal anomalies; normal skin; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; myoclonus epilepsy under control with valproate, levetiracetam 1 1 Johan den Dunnen
00311395 Pat13 PubMed: Granadillo 2020 2-generation family, affected mother/son M - - white;Hispanic - - - - NDD birth weight normal, length normal; normal height, weight >2SD, OFC 1.35; developmental delay/intellectual disability, WISC: VCI 79, PRI 71, PSI 73; no gross motor delay, fine motor delay, walk-11m; speech delay, 5y-first words; autism, attention deficit hyperactivity disorder; hypotonia; sleep problems latency; no hearing loss; normal vision; broad palms, repair of tibial malformation; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; renal ultrasound normal; cryptorchidism; mother has learning disability, attention deficit hyperactivity disorder, type 2 diabetes mellitus, scoliosis, migraine; father has social differences, compulsions, anxiety 1 2 Johan den Dunnen
00311396 Pat14 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - Brazil/African - - - - NDD birth weight 2.5 Kg (<3rd %ile), length 45 cm (<3rd %ile); normal height, normal weight, OFC 0; developmental delay/intellectual disability, IQ80; no gross motor delay, no fine motor delay, walk-13m; speech delay, 1y-first words; no autism, attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; strabismus; clinodactyly; triangular face, normal forehead, normal eyes, low-set, protruding and posteriorly rotated ears, normal nose, normal mouth; constipation (early infancy); MRI brain normal; ECG normal; imperforate anus, vestibular fistula; central precocious puberty; no family history 1 1 Johan den Dunnen
00311397 Pat15 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected parents F - - Europe-West - - - - NDD birth weight 2.5 Kg (<3rd %ile), length 45 cm (<3rd %ile), OFC normal; normal height, normal weight, OFC -0.26; developmental delay/intellectual disability, IQ50; gross motor delay, fine motor delay, walk-16m; speech delay; no autism, attention deficit hyperactivity disorder, anger with tremor; no hypotonia; no sleep problems; no hearing loss; normal vision; joint hypermobility; round face, normal forehead, normal eyes, normal ears, anteverted nares, normal mouth; no gastrointestinal problems; bilateral inguinal hernia; no family history 1 1 Johan den Dunnen
00311398 Pat16 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected parents F - - white - - - - NDD birth weight normal; normal height, normal weight, OFC 1.37; developmental delay/intellectual disability, WASI-2 - FS IQ 113, verbal comprehension 131; gross motor delay, fine motor delay, walk-12m; speech delay, 2y-first words; no autism, attention deficit hyperactivity disorder, Impulsivity; hypotonia; no sleep problems; conductive no hearing loss; bilateral astigmatism, wears glasses; pes planus, scoliosis, muscle atrophy in legs; normal skin; normal face, tall forehead, deep set eyes, protruding ears with overfolded helix, bulbous nasal tip, low columella, normal mouth; constipation; renal ultrasound normal; recurrent ear infections T&A; no family history 1 1 Johan den Dunnen
00311399 Pat17 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - NDD birth weight normal, length normal, OFC normal; normal height, weight -2SD, OFC -2.1; developmental delay/intellectual disability; no gross motor delay, fine motor delay, walk-15m; speech delay, 2y-3y-first words; autistic features, no attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; normal vision; joint pain (hands and feet), long slender fingers, Marfanoid features; normal skin; narrow face, normal forehead, deep set eyes, protruding ears, normal nose, microretrognathia; swallowing difficulties; MRI brain normal; ECG wide aortic root (z-score=2.6); no family history 1 1 Johan den Dunnen
00466067 - - - F - - (not applicable) white - - - - NDD HP:0001263, HP:0000271, HP:0006889 1 1 Marketa Wayhelova
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