
 Individual ID
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 ID_report
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 Reference
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 Remarks
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 Gender
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 Consanguinity
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 Country
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 Population
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 Age at death
|

 VIP
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 Data_av
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 Treatment
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 Disease
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 Phenotype details
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 Genes screened
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 Variants in genes
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 Variants
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 Panel size
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 Owner
|
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) |
SRCAP |
SRCAP |
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 |
- |
SRCAP |
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) |
- |
SRCAP |
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) |
- |
SRCAP |
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) |
- |
SRCAP |
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 |
- |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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) |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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) |
SRCAP |
SRCAP |
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) |
SRCAP |
SRCAP |
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) |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
1 |
1 |
Dennis E. Bulman |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
1 |
1 |
Carine Le Goff |
00305408 |
Pat7 |
PubMed: Le Goff 2013, Journal: Le Goff 2013 |
- |
F |
- |
France |
- |
- |
- |
- |
- |
FLHS |
birth weight 3180 kg, length 47 cm, OFC 35 cm; 8y-weight 20.6 kg, height 118 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; atrial septal defect; no puberty |
- |
- |
- |
1 |
Carine Le Goff |
00305409 |
Pat8 |
PubMed: Le Goff 2013, Journal: Le Goff 2013 |
- |
M |
- |
France |
- |
- |
- |
- |
- |
FLHS |
birth weight 3620 kg, length 50.5 cm, OFC 37 cm; 19y-height 152 cm, OFC 53 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; clinodactyly; no digestive abnormalities; hypernasal voice; speech delay, mild intellectual disability; pulmonary stenosis cryptorchidism; 16y-puberty |
- |
- |
- |
1 |
Carine Le Goff |
00305410 |
Pat9 |
PubMed: Le Goff 2013, Journal: Le Goff 2013 |
- |
M |
- |
France |
- |
- |
- |
- |
- |
FLHS |
birth weight 2990 kg, length 46 cm, OFC 33 cm; 15y-weight 46.1 kg, height 152.4 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; no clinodactyly, 2–3 toe syndactyly; no digestive abnormalities; delayed bone age; hypernasal voice; speech delay; mild ventricular dilatation; puberty treated by androtardyl |
- |
- |
- |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
1 |
1 |
Johan den Dunnen |
00305450 |
mother |
PubMed: Nikkel 2013, PubMed: Arpin 2012 |
2-generation family, affected mother/daughter |
F |
- |
France |
- |
- |
- |
- |
- |
FLHS |
see paper; ... |
SRCAP |
SRCAP |
1 |
2 |
Johan den Dunnen |
00305451 |
daughter |
PubMed: Nikkel 2013, PubMed: Arpin 2012 |
daughter |
F |
- |
France |
- |
- |
- |
- |
- |
FLHS |
see paper; ... |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
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 |
SRCAP |
SRCAP |
1 |
1 |
Johan den Dunnen |
00305486 |
patient |
PubMed: Nikkel 2013 |
2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases |
- |
- |
- |
- |
- |
- |
- |
- |
FLHS |
not specified, only summary data provided |
SRCAP |
SRCAP |
1 |
1 |
Johan den Dunnen |
00305487 |
mother/Pat11 |
PubMed: Nikkel 2013, PubMed: White 2010 |
2-generation family, affected mother/daughter |
F |
- |
Australia |
- |
- |
- |
- |
- |
FLHS |
see paper; ... |
SRCAP |
SRCAP |
1 |
2 |
Johan den Dunnen |
00305488 |
daughter/Pat12 |
PubMed: Nikkel 2013, PubMed: White 2010 |
daughter |
F |
- |
Australia |
- |
- |
- |
- |
- |
FLHS |
see paper; ... |
SRCAP |
SRCAP |
1 |
1 |
Johan den Dunnen |