All individuals with variants in gene TFE3

23 entries on 1 page. Showing entries 1 - 23.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00172659 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 64 Lucy Raymond
00172660 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00320332 Pat1/Pat1 PubMed: Villegas 2019, PubMed: Lehalle 2020 - F - France - - 0 - - ID pregnancy high serum markers, normal foetal karyotype; no neonatal features; birth 36w, weight –1SD, length +0.5SD; length -4.5SD, BMI 25 (80th); severe developmental delay/intellectual disability; not walking; no speech; 7m-epilepsy; 7m-psychomotor regression; hypotonia; no behavioural issues; MRI brain normal; widely spaced eyes; bifid nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; hip dislocation; no genu valgum; no club feet; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; aortic insufficiency, body asymmetry; no recurrent infections 1 1 Johan den Dunnen
00320333 Pat5/Pat2 PubMed: Villegas 2019, PubMed: Lehalle 2020 - F - France - - 0 - - ID pregnancy uncomplicated; no neonatal features; length -4SD, OFC 0SD, BMI 30 (92th); severe developmental delay/intellectual disability; 40m-walk; few words; 10y-epilepsy; 9m-psychomotor regression; hypotonia; no behavioural issues; MRI brain normal; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness, protruding tongue; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; genu valgum; club feet; normal skeletal X-rays; normal skin pigmentation; no umbilical hernia; strabismus; no hearing loss; no recurrent infections 1 1 Johan den Dunnen
00320334 Pat3/Pat3 PubMed: Villegas 2019, PubMed: Lehalle 2020 - F - France - - 0 - - ID pregnancy oligohydramnios, third trimester intrauterine growth retardation; neonatal hypoglycaemia; birth 41w, weight –2SD; length -1.4SD, OFC -1SD, BMI 17.5 (90th); severe developmental delay/intellectual disability; not walking; no speech; 17m-epilepsy; infancy regression; no neurological phenotype; no behavioural issues; MRI brain normal; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; unilateral dysplasia; no genu valgum; no club feet; skin Blaschko’s lines; umbilical hernia; strabismus, impaired vision; no hearing loss; chronic upper airways infections 1 1 Johan den Dunnen
00320335 Pat4 PubMed: Lehalle 2020 - F - - Europe - 0 - - ID pregnancy uncomplicated; neonatal plagiocephaly; birth 41w, weight +2SD, length >+3SD, OFC +2SD; length +1.4SD, OFC +0.7SD, BMI 19.9 (95th); severe developmental delay/intellectual disability, no interaction, low head control; not walking; no speech; no epilepsy; no developmental regression; severe truncal muscular hypotonia, distal hypertonia; autistic behaviour (stereotypic movements); MRI brain normal; high forehead; widely spaced eyes; anteverted nares; flat nasal bridge; coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; hyperopia; unconclusive hearing test; no recurrent infections 1 1 Johan den Dunnen
00320336 Pat5 PubMed: Lehalle 2020 - F - - - - 0 - - ID pregnancy uncomplicated; neonatal jaundice, transient neonatal hepatomegaly; birth 38w, weight +1SD, length –1SD, OFC -1SD; length -4SD, OFC 0SD, BMI 19; severe developmental delay/intellectual disability; not walking; no speech; 6y-epilepsy; no developmental regression; hypotonia, lower limb spasticity; MRI brain short corpus callosum; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skeletal X-rays metaphyseal enlargement; skin Blaschko’s lines; no umbilical hernia; abnomality of the vep; hearing loss; clubbing of fingers 1 1 Johan den Dunnen
00320337 Pat6 PubMed: Lehalle 2020 - F - Portugal - - 0 - - ID pregnancy uncomplicated; neonatal feeding difficulties; birth term, weight 0SD, length +0.5SD, OFC +0.5SD; length -1SD, OFC 0SD, BMI 18 (90th); severe developmental delay/intellectual disability, head control; not walking; no speech; no epilepsy; no developmental regression; no neurological phenotype; sleep disturbance; MRI brain hydrocephaly (acqueducal stenosis); no widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skeletal X-rays short metacarpals and long bones; skin Blaschko’s lines; no umbilical hernia; strabismus, depigmented iridian macule; hearing loss; lateral semicircular canal dysplasia, laryngomalacia; recurrent infections 1 1 Johan den Dunnen
00320338 Pat2/Pat7 PubMed: Villegas 2019, PubMed: Lehalle 2020 - F - France - - 0 - - ID pregnancy ureteral dilatation, gestational diabetes; neonatal hypotonia, feeding difficulties; birth 38w, weight +2SD, length 0SD, OFC 0SD; length +2.5SD, OFC 1SD, BMI 15.4 (50th); severe developmental delay/intellectual disability, 12m-sit; not walking; no speech; no epilepsy; no developmental regression; no neurological phenotype; hand stereotypies, sleep disturbance, autism; MRI brain normal; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; no coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skeletal X-rays; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; histiocytofibroma (4y); no recurrent infections 1 1 Johan den Dunnen
00320339 Pat8 PubMed: Lehalle 2020 - F - - - - 0 - - ID pregnancy uncomplicated; no neonatal features; birth 39w, weight 0SD, lenght 0SD; length -3SD, OFC -0.5SD, BMI 22.4 (85th); severe developmental delay/intellectual disability; 6y-walk; no speech; 4y-epilepsy; infancy loss of words; hypotonia; happy behaviour, sleep disturbance; MRI brain normal; widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skeletal X-rays; skin Blaschko’s lines; no umbilical hernia; hyperopia; no hearing loss; patent ductus arteriosus, gastro-oesophageal reflux; no recurrent infections 1 1 Johan den Dunnen
00320340 Pat9 PubMed: Lehalle 2020 - F - - - - 0 - - ID pregnancy uncomplicated; neonatal jaundice; birth 39w, weight +1SD; length -2.8SD, OFC +0.5SD, BMI 25 (90th); severe developmental delay/intellectual disability; 30m-walk; 3y-single words; 10y-epilepsy; no developmental regression; no neurological phenotype; autistic behaviour (stereotypies); MRI brain normal; widely spaced eyes; flat nasal bridge; anteverted nares; coarseness; no hypertrichosis; thick lips; pink and full cheeks; no almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; no recurrent infections 1 1 Johan den Dunnen
00320341 Pat10 PubMed: Lehalle 2020 - F - - - - 0 - - ID pregnancy Tegretol; neonatal geeding difficulties; birth birth 36+6w, weight 0SD; length -3.5SD, BMI 21; severe developmental delay/intellectual disability; 7y-walk with assistance; no speech; 10y-epilepsy; 9m-loss of babbling; increased reflexes, tremor of the upper extremities, wide-based gait; autistic behaviour (stereotypies); MRI brain abnormal myelination; broad forehead; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness, protruding tongue; no hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; genu valgum; club feet; skin large hyperpigmented region on the abdomen; no umbilical hernia; normal eyes; no hearing loss; chronic constipation; no recurrent infections 1 1 Johan den Dunnen
00320342 Pat11 PubMed: Lehalle 2020 - F - - - - 0 - - ID pregnancy uncomplicated; no neonatal features; birth 36+6w, weight –0.5SD, length -1SD, OFC –1.8SD; length -2.5SD, BMI 17.5; severe developmental delay/intellectual disability; not walking; no speech; 5y-seizure; no developmental regression; hypotonia, mild spasticity (left side); no behavioural issues; MRI brain normal; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness; hypertrichosis; thick lips; no pink and full cheeks; no almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; club feet left; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; body asymmetry; no recurrent infections 1 1 Johan den Dunnen
00320343 Pat12 PubMed: Lehalle 2020 - F - - - - 0 - - ID no neonatal features; birth 39w, weight –1SD, length -1SD, OFC –1SD; length 1SD, OFC +0.5SD, BMI 95th; significant developmental delay; not walking; no speech; no epilepsy; no developmental regression; hypotonia; no behavioural issues; widely spaced eyes; flat nasal bridge; no coarseness; no hypertrichosis; thick lips; no pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; abnormal skin pigmentation; no umbilical hernia; normal eyes; conductive hearing loss; –; no recurrent infections 1 1 Johan den Dunnen
00320344 Pat13 PubMed: Lehalle 2020 - M - - Europe - 0 - - ID pregnancy gestational diabetes; 4m-hepatomegaly; birth 41w, weight –0.5SD, length -1SD, OFC –1SD; length -4SD, OFC -1SD, BMI 23; severe developmental delay/intellectual disability; not walking; no speech; <1y-epilepsy; no developmental regression; spastic tetraplegia, ataxic gait; autistic behaviour (stereotypies, self-injuries) sleep disturbance; MRI brain unspecific changes in paraventricular myelination, generalised cerebral atrophy, retrocerebellar arachnoid cyst; flat face; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; hip dysplasia; genu valgum; no club feet; skeletal X-rays advanced bone age; normal skin pigmentation; umbilical hernia; strabismus, severe myopia, retinal degeneration; no hearing loss; clubbing of fingers, splenomegaly, anteriorly displaced anus, kidney asymmetry; recurrent lung infections 1 1 Johan den Dunnen
00320345 Pat14 PubMed: Lehalle 2020 - M - - Ashkenazi-Jewish - 0 - - ID pregnancy uncomplicated; no neonatal features; birth weight -1SD; length 2SD, OFC 0SD, BMI 16; severe developmental delay/intellectual disability; 30m-walk; no speech; no epilepsy; no developmental regression; hypotonia; autistic behaviour; MRI brain normal; widely spaced eyes; anteverted nares; flat nasal bridge; coarseness; hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; oculomotor apraxia; no hearing loss; interstitial lung disease, chronic diarrhoea; no recurrent infections 1 1 Johan den Dunnen
00320346 Pat15 PubMed: Lehalle 2020 - M - - Europe - 0 - - ID no neonatal features; length -1SD, OFC 1SD, BMI 21.3 (>95th); severe developmental delay/intellectual disability; 3y-walk; na; no epilepsy; no developmental regression; no neurological phenotype; autism; MRI brain normal; no widely spaced eyes; no anteverted nares; flat nasal bridge; coarseness; no hypertrichosis; thick lips; pink and full cheeks; no almond-shaped eyes; no thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; strabismus; no hearing loss; posterior plagiocephaly; no recurrent infections 1 1 Johan den Dunnen
00320347 Pat16 PubMed: Lehalle 2020 - M - - - - 0 - - ID neonatal jaundice; birth 33w; length -2.63SD, OFC +1.9SD, BMI 20 (>95th); severe developmental delay/intellectual disability, 4y-sit; not walking; no speech; epilepsy; no developmental regression; hypotonia, spasticity; autistic behaviour, sleep disturbance; MRI brain arachnoid cyst, Dandy-Walker malformation; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; club feet; skin Blaschko’s lines; cortical visual impairment, strabismus, amblyopia; hearing loss; chronic lung disease (4 m.), sleep apnoea syndrome; recurrent infections, neutropenia 1 1 Johan den Dunnen
00320348 {at4/Pat17 PubMed: Villegas 2019, PubMed: Lehalle 2020 - M - France - - 0 - - ID pregnancy uncomplicated; neonatal cholestasis, hepatomegaly, hypoglycaemia; birth at term, weight -1SD, OFC +1SD; length -4.5, OFC -0.4, BMI 16.6 (80th) ; severe developmental delay/intellectual disability; not walking; no speech; 1d-epilepsy; no developmental regression; hypotonia; sleep disturbance; MRI brain hydrocephaly, periventricular white matter lesions; prominent forehead; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hip dislocation; no club feet; normal skeletal X-rays (thorax); skin Blaschko’s lines; umbilical hernia; normal eyes; hearing loss; bronchomalacia, cardiac left ventricle dilatation, hypospadias, clubbing of fingers; recurrent infections 1 1 Johan den Dunnen
00320349 Pat1 PubMed: Diaz 2020 - F - United States - - 0 - - ID no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3.5y-walk; speech few words; developmental regression; hand stereotypies; no epilepsy; hypotonia; MRI brain normal; coarse facies; height -0.4SD, BMI 38.1 (obese), OFC +2.7SD; skin Blaschkoid pigmentary mosaicism; no umbilical hernia; no orthopedic anomalies; no strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder 1 1 Johan den Dunnen
00320350 Pat2 PubMed: Diaz 2020 - F - United States - - 0 - - ID no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3y-walk; speech few words; developmental regression; hand stereotypies; 32m-epilepsy; hypotonia; MRI brain normal; coarse facies; height +0.16SD, BMI 18.5 (overweight), OFC +1.39SD; skin Blaschkoid pigmentary mosaicism; umbilical hernia; orthopedic anomalies; strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder 1 1 Johan den Dunnen
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