All individuals with variants in gene SRCAP

114 entries on 2 pages. Showing entries 1 - 100.
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00000205 Pat1 PubMed: Le Goff 2013, Journal: Le Goff 2013 - F - France - - - - - FLHS birth weight 2420 kg, length 46 cm, OFC 33 cm; 32y-weight 45 kg, height 144 cm, OFC 56 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; no clinodactyly; digestive abnormalities; delayed bone age; hypernasal voice (pharyngoplasty surgery); speech delay; hypertrophic genital labia, right hip osteochondritis, abnormal retina (‘salt and pepper’ without visual impairment); 13y-puberty (medical slow down of puberty for height gain purpose) 1 1 Carine Le Goff
00001566 Pat1 PubMed: Hood 2012, PubMed: White 2010 - M - France France - - - - FLHS Head circumference at 8y 54cm /+1 SD; Weight at 8y of 25.5kg/0 SD; Height at 8y of 123cm/-0.8 SD; Prepubertal height -0.8 SD; Bone age of 2.5y at chronological age of 7.5y; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ear; Hypospadias; Celiac disease; Borderline normal intellectual development; Delayed development of expressive language; Mainstream education with support; Normal microarray (44K) findings 1 1 Dennis E. Bulman
00001578 Pat2 PubMed: Hood 2012, PubMed: White 2010 - F - - mixed European - - - - FLHS head circumference at 12y of 0SD; Height at 12y of 133.5 cm/-2.2SD; Age at puberty of 12y; Bone age of 2y6m at chronological age of 5y7m; Bone age of 11y at chronological age of 9y9m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Hydronephrosis; Nephrocalcinosis; Recurrent otitis media; Normal intellectual development; Moderate delayed development of expressive language; Mainstream education with support; Normal microarry findings (Affymetrix 2.7M); delayed bone age; brachydactyly (HP:0000153) 1 1 Dennis E. Bulman
00001579 Pat3 PubMed: Hood 2012 - M - - mixed European - - - - FLHS head circumference at 12y of 53cm/-1SD; Height at 12y of 134.8cm/-2.0SD; Perputertal height -2.0SD; Bone age of 8y at chronological age of 11y; Triangular face; Distinctive nose; Low-hanging columella; Thin uppper vermilion border; Wide mouth; Broad fingertips; Clinodactyly (radial deviation fifth distal phalanx); Dislocated radial head; 11 rib pairs; Maxillary retrusion; Underbite; Mild aortic coarctation; Borderline normal intellectual development; Moderate delayed development of expressive language; Normal microarray findings (180k Agilent); delayed bone age; brachydactyly (HP:0000153) 1 1 Dennis E. Bulman
00001580 Pat4 PubMed: Hood 2012 - M - Finland Finnish - - - - FLHS bone age of 2y at chronological age of 4y8m; Bone age of 9y at chronological age of 10y8m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Clinodactyly; Caries; Microdontia; Cryptorchidism; Hyperopia; Conductive hearing loss; Borderline normal intellectual development; Impaired development of expressive language; Attend special school; Normal microarray findings (105K); delayed bone age; brachydactyly (HP:0000153) 1 1 Dennis E. Bulman
00001581 Pat5 PubMed: Hood 2012 - M - Germany;Mexico German and Mexican - - - - FLHS OFC 4y3m of 48.5cm/-1.7SD; Weight at 4y3m of 11kg/-3.4SD; Height at 4y3m of 86.5cm/-4.3SD; Prepubertal height -4.4SD; Bone age of 1y at chronological age of 2y11m; Triangular face; Distinctive nose; Low-hanging columella; borderline wide mouth; Low-set ears; Broad thumbs; Clinodactyly; Short fifth metacarpal; Hyperopia; Normal intellectual development; Borderline normal development of expressive language (bilingual); mainstream education; 7q31dup (paternally inherited);; delayed bone age 1 1 Dennis E. Bulman
00001598 Pat6 PubMed: Hood 2012 - M - Brazil Brazil - - - - FLHS OFC 04y of 48cm/-2SD; Height at 4y of 89.9cm/-3.2SD; Prepubertal height -3.2SD; Bone age of 1y at Chronological age of 3y; Distinctive nose; Low-hanging columella; Wide mouth; Broad thumbs; Brachydactyly of fifth toes; Atrial septal defect; Hyperopia; unilateral renal pelviectasis; Moderate delayed intellectual development; Moderate delayed devolopment of expressive language; Xp22.31dup (maternally inherited); delayed bone age 1 1 Dennis E. Bulman
00001599 Pat7 PubMed: Hood 2012 - M - Germany German - - - - FLHS OFC 4y4m of 50cm/+0.7SD; Height at 4y4m of 90cm/-3.6SD; Prepubertal height -3.6SD; Bone age of 3y at chronological age of 4y; Distinctive nose; Low-hanging columella; Thin uppervermilion border; Low-set ears; Clavicular hypoplasia; mesocardia; Persistent left superior vena cava; conductive hearing loss; borderline normal intellectual development; moderate delayed development of expressive language; mainstream education with support; delayed bone age 1 1 Dennis E. Bulman
00001600 Pat8 PubMed: Hood 2012 - F - - white - - - - FLHS OFC 10y5m of 49.5cm/-1SD; Height circumference at 10y5m of 118.5cm/-3.5SD; Prepubertal height -3.5SD; Bone age of 1y at chronological age of 5y; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion; Wide mouth; Low-set ears; Clinodactyly; Kyphoscoliosis; Caries; Delayed loos of primary teeth; Constipation; Mild intellectual disability; Severe delayed development of expressive language; Special education; delayed bone age; brachydactyly (HP:0000153) 1 1 Dennis E. Bulman
00001611 Pat9 PubMed: Hood 2012, PubMed: White 2010 - M - - white - - - - FLHS OFC 11y of 50.5cm/-2SD; Height at 11y of 116.8cm/-3.9SD; Pubertal age of 14y at chronological age of 11y; Bone age of 3-6m at chronological age of 1y; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad finger tips; Clinodactyly; Dysplastic hips; Bilateral inguinal hernia; Cryptorchidism; Velopharyngeal imcompetence; Hearing loss; Moderately severe learning disability; Moderate delayed development of expressive language; special education; delayed bone age 1 1 Dennis E. Bulman
00001612 Pat10 PubMed: Hood 2012 - M - Brazil Brazil - - - - FLHS OFC 19y of 52cm/-2.5SD; Height at 19y of 145.5cm/-4.1SD; Bone age of 2y at chronological age of 7y; Triangular face; Distinctive nose; Low-hanging columella; Wide mouth; 11 rib pairs; Ivory epiphyses in distal phalanges; posterior urethral valves; Umbilical hernia; Significant intellectual disability; Can speak some words; Attending special school; delayed bone age 1 1 Dennis E. Bulman
00001613 Pat11 PubMed: Hood 2012 - M - Brazil Brazil - - - - FLHS OFC 19y7m of 56cm/0SD; Height at 19y7m of 148cm/-3.8SD; Bone age of 3y at chronological age of 7y; Triangular face; Distinctive nose; Low-hanging columella; Wide mouth; Broad thumbs; Broad fingertips; Brachydactyly; Clinodactyly; Short middle phalanges of second and fifth fingers; Strabismus; Intellectual disability; Moderate delayed development of expressive language; Attending special school; Normal 22q11; delayed bone age; brachydactyly (HP:0000153) 1 1 Dennis E. Bulman
00001614 Pat12 PubMed: Hood 2012 - M - China Chinese - - - - FLHS age at puberty of 10y; Prepubertal height -3SD; Bone age of 10y 6m at chronological age of 11y4m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Clinodactyly; Short first metacarpal; Caries; Microdontia; Underbite; Bilateral epididymal cysts; Left varicocele; Borderline normal intellectual development; Moderate delayed development of expressive language; Special education; Normal microarray findings (Agilent 6.1); delayed bone age; brachydactyly (HP:0000153) 1 1 Dennis E. Bulman
00001615 Pat13 PubMed: Hood 2012 - M - Poland Polish - - - - FLHS preputertal height -2.5SD; Bone age of 8m at chronological 2y8m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion broder; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Clinodactyly; Short fifth metacarpal; Unilateral cleft lip; Cryotorchidism; Mild intellectual disability; Moderate delayed development of expressive language; Mainstream education with support; Normal microarry finings (Agilent 244K); delayed bone age; brachydactyly (HP:0000153) 1 1 Dennis E. Bulman
00001630 patient PubMed: Kehrer 2014 - M no Germany German - - - - FLHS glandular hypospadias at birth; Walking at 24m; Speech develomental delay; Height at 8y9m of 119cm/<3rd centile; Weight at 8y9m of 26.8kg/25th centile; OFC at 8y9m of 53cm/75th centile; Metopic ridge; Pits of ear lobules; Typical nose (broad base, prominent nasal bridge, hypoplastic alae nasi, bulbous tip, low-hanging columella); Thin upper lip; Bilateral fifth finger clinodactyly; generalized hypertrichosis; atopic dermatitis; Attend special school; temperament and behavior diffiiculties with (auto)arressive outbursts; Brain MRI, sonography of the abdomen, EEG, ophthalmologic examination and hearing tests are normal; Bone age of 5y3m at chronological age of 8y2m; SNP array(Affymetrix 6.0) normal; delayed bone age 1 1 Dennis E. Bulman
00002426 - PubMed: Reschen 2012; PubMed: White 2010 - M no (United Kingdom (Great Britain)) white - - - - MFDGA;MFDM diagnosed with FHS at age of 7y, markely poor growth; expressive language delay; hearing problems; 2.5y bone age delay; prominent nose and ears; 46,XY; attended a normal school but required intensive speech therapy; at 15y, height<-3SD and paucity of speech; stage 2 high blood pressure; history of an episode of macroscopic hematuria and left flank pain; mild left ventricular hypertrophy in echocardiogram; multiple bilateral cysts in his kidneys; creatinine of 87 mmol/L, eGFR of 99ml/min/1.73m2 with the MDRD equation or 106ml/min/1.73m2 with the more accurate CKD-EPI equation. Urinalysis revealed no blood and 30 mg/dl proteinuria; a left posterior cerebral artery with a hypoplastic segment of the precommunicating part of the posterior cerebral artery and co-dominant vertebral arteries 1 1 Dennis E. Bulman
00050425 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? macrocephaly, 3-5 finger syndactyly, convex nasal ridge, abnormality of the hair 1 1 Johan den Dunnen
00050683 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development 1 2 Johan den Dunnen
00288192 Pat2 PubMed: Lee 2019 - - - United States - - - - - ? small for gestational age, decreased body weight, short stature, submucous cleft hard palate, bifid uvula, astigmatism, chronic otitis media, hyperhidrosis, left aortic arch with retroesophageal right subclavian artery, arthralgia, hypotonia, delayed skeletal maturation, renal cyst, hypospadias, urethral stenosis, hematuria, hemosiderin, developmental delay, periventricular, oral aversion, gliosis, small pituitary gland, micrognathia 1 1 Johan den Dunnen
00291441 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00305403 Pat2 PubMed: Le Goff 2013, Journal: Le Goff 2013 - F - Spain;Portugal - - - - - FLHS birth weight 2.110 kg (P10), length 45 cm (P10-P50), 36w-OFC 32 cm (P50) cm; 28y-weight 35 kg, height 132 cm, OFC 53.5 cm; triangular face; long nose; low hanging; no columella; no short philtrum, no thin upper lip, no wide mouth, no short neck; clinodactyly, cutaneous syndactyly (fingers 2–5); transient gluten intolerance; delayed bone age (6m at 25m, 4y at 7y); hypernasal voice; speech delay, 3y-first word, 4-5y-first sentences, mild intellectual disability; unilateral pseudarthrosis of clavicle and bilateral hypoplastic clavicles, bilateral anterior eye chamber defects, breast asymmetry; 16y-puberty; lipid myopathy, premature ageing, generalized osteopenia, bilateral hypoplasia and occlusion of internal carotid arteries (Moya–Moya‐like) with multiple cerebral infarcts and leukoencephalopathy, 10y-spastic R motor hemisyndrom 1 1 Carine Le Goff
00305404 Pat3 PubMed: Le Goff 2013, Journal: Le Goff 2013 - M - France - - - - - FLHS birth weight 2960 kg, length 48 cm, OFC 37 cm; 7y6m -weight 20 kg, height 112 cm, OFC 52 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; clinodactyly, brachydactyly, short first MC; no digestive abnormalities; delayed bone age; hypernasal voice; mild developmental delay; inguinal hernia; no puberty 1 1 Carine Le Goff
00305405 Pat4 PubMed: Le Goff 2013, Journal: Le Goff 2013 - F - France - - - - - FLHS birth weight 2670 kg, length 48 cm, OFC 32 cm; 10y-weight 24 kg, height 124 cm, OFC 52.5 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; no clinodactyly, cutaneous syndactyly (fingers 3–5); transient gluten intolerance; mild delayed bone age; hypernasal voice; speech delay, mild development delay, seizures; atrial septal defect; no puberty; familial Marfan syndrome, root aortic dilatation, ectopial lentis arachnodactyly 1 1 Carine Le Goff
00305406 Pat5 PubMed: Le Goff 2013, Journal: Le Goff 2013 - F - Spain - - - - - FLHS birth weight kg, length 2000 cm, OFC cm; 32y-weight 55 kg, height 136 cm, OFC 52 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; clinodactyly; no digestive abnormalities; delayed bone age; hypernasal voice; speech delay; 10y-premature puberty 1 1 Carine Le Goff
00305407 Pat6 PubMed: Le Goff 2013, Journal: Le Goff 2013 - M - France - - - - - FLHS birth weight 3440 kg, length 50 cm, OFC 35 cm; 9y-weight 19.9 kg, height 120 cm, OFC 52.5 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; clinodactyly; delayed bone age; hypernasal voice; speech delay; no puberty 1 1 Carine Le Goff
00305411 Pat1 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - FLHS see paper; ..., short stature; delayed bone age; triangular face; low-hanging columella; short philtrum; thin upper vermilion border; no wide mouth; no deep-set eyes; long eyelashes; low set ears; no broad thumbs; no brachydactyly; no clinodactyly 5th finger; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; behavioral issues 1 1 Johan den Dunnen
00305412 Pat2 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - FLHS see paper; ..., short stature; delayed bone age; triangular face; low-hanging columella; no short philtrum; thin upper vermilion border; wide mouth; deep-set eyes; no long eyelashes; no low set ears; no broad thumbs; no brachydactyly; no clinodactyly 5th finger; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; no behavioral issues 1 1 Johan den Dunnen
00305413 Pat3 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - FLHS see paper; ..., short stature; delayed bone age; no triangular face; no low-hanging columella; no short philtrum; no thin upper vermilion border; no wide mouth; no deep-set eyes; long eyelashes; no low set ears; broad thumbs; brachydactyly; no clinodactyly 5th finger; small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; no congenital heart defects; no gastrointestinal motility issues; behavioral issues 1 1 Johan den Dunnen
00305414 Pat4 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - FLHS see paper; ..., short stature; delayed bone age; triangular face; no low-hanging columella; no short philtrum; no thin upper vermilion border; no wide mouth; no deep-set eyes; no long eyelashes; low set ears; no broad thumbs; brachydactyly; no clinodactyly 5th finger; small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; no congenital heart defects; gastrointestinal motility issues; no behavioral issues 1 1 Johan den Dunnen
00305415 Pat5 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - FLHS see paper; ..., short stature; no triangular face; no low-hanging columella; no short philtrum; no thin upper vermilion border; no wide mouth; deep-set eyes; long eyelashes; low set ears; no broad thumbs; no brachydactyly; clinodactyly 5th finger; no small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; no intellectual disability; no gastrointestinal motility issues; no behavioral issues 1 1 Johan den Dunnen
00305416 Pat6 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - FLHS see paper; ..., short stature; delayed bone age; triangular face; no low-hanging columella; no short philtrum; no thin upper vermilion border; no wide mouth; no deep-set eyes; long eyelashes; no low set ears; no broad thumbs; brachydactyly; clinodactyly 5th finger; no small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; congenital heart defects; no gastrointestinal motility issues; no behavioral issues 1 1 Johan den Dunnen
00305417 Pat7 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - FLHS see paper; ..., short stature; delayed bone age; triangular face; low-hanging columella; short philtrum; thin upper vermilion border; no wide mouth; no deep-set eyes; no long eyelashes; no low set ears; no broad thumbs; no brachydactyly; no clinodactyly 5th finger; no small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; congenital heart defects; no gastrointestinal motility issues; no behavioral issues 1 1 Johan den Dunnen
00305418 Pat8 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - FLHS see paper; ..., short stature; delayed bone age; triangular face; low-hanging columella; short philtrum; thin upper vermilion border; no wide mouth; deep-set eyes; long eyelashes; low set ears; broad thumbs; brachydactyly; clinodactyly 5th finger; small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; no congenital heart defects; gastrointestinal motility issues; behavioral issues 1 1 Johan den Dunnen
00305419 Pat9 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - FLHS see paper; ..., short stature; delayed bone age; no triangular face; no low-hanging columella; short philtrum; thin upper vermilion border; wide mouth; deep-set eyes; long eyelashes; no low set ears; broad thumbs; brachydactyly; clinodactyly 5th finger; small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; no congenital heart defects; gastrointestinal motility issues; behavioral issues 1 1 Johan den Dunnen
00305420 Pat10 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected parents M - China - - - - - FLHS see paper; ..., short stature; delayed bone age; triangular face; low-hanging columella; short philtrum; thin upper vermilion border; wide mouth; no deep-set eyes; long eyelashes; low set ears; broad thumbs; brachydactyly; no clinodactyly 5th finger; small teeth/widely spaced teeth; high-pitched voice; expressive language delay; mild/moderate intellectual disability; no gastrointestinal motility issues; behavioral issues 1 1 Johan den Dunnen
00305421 Pat11 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - FLHS see paper; ..., short stature; triangular face; low-hanging columella; short philtrum; thin upper vermilion border; no wide mouth; no deep-set eyes; long eyelashes; low set ears; broad thumbs; brachydactyly; no clinodactyly 5th finger; small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; congenital heart defects; gastrointestinal motility issues; behavioral issues 1 1 Johan den Dunnen
00305422 Pat12 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - FLHS see paper; ..., short stature; delayed bone age; no triangular face; low-hanging columella; short philtrum; thin upper vermilion border; no wide mouth; no deep-set eyes; long eyelashes; low set ears; broad thumbs; brachydactyly; no clinodactyly 5th finger; small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; gastrointestinal motility issues; no behavioral issues 1 1 Johan den Dunnen
00305423 patient Rots ESHG2020 C02.4 - F - - - - - - - NDD see paper; ..., motor delay, speech delay, autism spectrum disorder, hypotonia 1 1 Johan den Dunnen
00305424 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305425 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305426 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305427 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305428 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305429 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305430 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305431 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305432 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305433 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305434 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305435 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305436 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305437 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305438 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305439 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305440 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305441 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305442 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305443 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305444 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems 1 1 Johan den Dunnen
00305445 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, Marfanoid-like 1 1 Johan den Dunnen
00305446 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, Marfanoid-like 1 1 Johan den Dunnen
00305447 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, Marfanoid-like 1 1 Johan den Dunnen
00305448 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, Marfanoid-like 1 1 Johan den Dunnen
00305449 patient Rots ESHG2020 C02.4 - - - - - - - - - NDD see paper; ..., speech delay, intellectual disability, normal height, normal bone age, Marfanoid-like 1 1 Johan den Dunnen
00305450 mother PubMed: Nikkel 2013, PubMed: Arpin 2012 2-generation family, affected mother/daughter F - France - - - - - FLHS see paper; ... 1 2 Johan den Dunnen
00305451 daughter PubMed: Nikkel 2013, PubMed: Arpin 2012 daughter F - France - - - - - FLHS see paper; ... 1 1 Johan den Dunnen
00305452 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305453 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305454 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305455 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305456 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305457 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305458 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305459 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305460 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305461 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305462 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305463 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305464 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305465 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305466 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305467 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305468 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305469 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305470 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305471 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305472 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305473 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305474 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305475 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305476 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305477 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305478 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305479 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305480 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305481 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305482 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305483 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305484 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
00305485 patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - FLHS not specified, only summary data provided 1 1 Johan den Dunnen
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