Legend
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Diagnosis/Initial: initial diagnosis, before molecular testing
Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
- Unknown
- Familial
- Familial, autosomal dominant
- Familial, autosomal recessive
- Familial, X-linked
- Familial, X-linked dominant
- Familial, X-linked dominant, male sparing
- Familial, X-linked recessive
- Paternal, Y-linked
- Maternal, mitochondrial
- Isolated (sporadic)
- Di-genic
- Complex
- - = Not applicable
Age/Onset: Age first symptoms disease appeared in individual:
- 35y = 35 years
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)
Age/Examination: age at which the individual was examined.
- 35y = 35 years
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Age/Diagnosis: age diagnosis was confirmed
- 35y = 35 years
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
Birth_Details: birth details individual: gestational age (weeks), premature birth (HP:0001622, <37w); birth weight (in g/SD); birth length (in cm/SD); OFC at birth (in cm/SD)
Phenotype/Onset: individual's phenotype at Age/Onset described using HPO
Height-Weight-OFC: Height-Weight-OFC last visit (SDS)
Face/Philtrum: individual has abnormal philtrum (specify)
All options:
- abnormal = abnormal philtrum (HP:0000288)
- deep = deep (depressed/prominent) philtrum (HP:0002002)
- flat = flat (simple/smooth) philtrum (HP:0000319)
- hypoplastic = hypoplastic philtrum (HP:0005326)
- long = long philtrum (HP:0000343)
- narrow = narrow philtrum (HP:0011829)
- raphe = philtrum with midline raphe (HP:0011826)
- short = short philtrum (HP:0000322)
- sinus = midline sinus of philtrum (HP:0011828)
- tented = tented philtrum (HP:0011825)
- wide = wide (broad) philtrum (HP:0000289)
- normal = normal philtrum
- ? = unknown
- n/a = not analysed
Protein: result from protein staining

 Phenotype ID
|

 Diagnosis/Initial
|

 Inheritance
|

 Age/Onset
|

 Diagnosis/Definite
|

 Age/Examination
|

 Phenotype details
|

 Age/Diagnosis
|

 Birth_Details
|

 Phenotype/Onset
|

 Height-Weight-OFC
|

 Face/Philtrum
|

 Protein
|

 Owner
|

 Individual ID
|
0000000748 |
- |
Unknown |
- |
- |
03y |
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 |
- |
40w; weight 3040g (-0.7) |
- |
weight 0 |
short |
- |
Dennis E. Bulman |
00001566 |
0000000750 |
- |
Unknown |
- |
- |
10y |
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) |
- |
40w; weight 3060g (-0.6); paternal age 43y |
- |
weight -0.8 |
short |
- |
Dennis E. Bulman |
00001578 |
0000000751 |
- |
Unknown |
- |
- |
01y03m |
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) |
- |
38w; paternal age of 29y; weight 2400g (-1.7) |
- |
- |
short |
- |
Dennis E. Bulman |
00001579 |
0000000752 |
- |
Isolated (sporadic) |
- |
- |
11y |
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) |
- |
35w; paternal age 35y; weight of 2620g (-0.5) |
- |
height 122 (-3.1); weight -3.2; OFC 53.5 (0) |
short |
- |
Dennis E. Bulman |
00001580 |
0000000753 |
- |
Isolated (sporadic) |
- |
- |
04y03m |
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 |
- |
paternal age 39y; 39w; weight 2515 (-2.2) |
- |
weight -3.4 |
short |
- |
Dennis E. Bulman |
00001581 |
0000000770 |
- |
Isolated (sporadic) |
- |
- |
03y03m |
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 |
- |
paternal age 32y; 40w; weight 2555 (-1.8) |
- |
weight -2.5 |
short |
- |
Dennis E. Bulman |
00001598 |
0000000776 |
- |
Isolated (sporadic) |
- |
- |
04y04m |
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 |
- |
paternal age 44y; 39w; weight 2430 (-2.4) |
- |
weight -2.4 |
short |
- |
Dennis E. Bulman |
00001599 |
0000000777 |
- |
Unknown |
- |
- |
04y |
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) |
- |
paternal age 40y; 31w; weight 1655 (0) |
- |
weight -3.3 |
short |
- |
Dennis E. Bulman |
00001600 |
0000000781 |
- |
Unknown |
- |
- |
00y11m |
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 |
- |
paternal age 34y; 41w; weight 2900 (-1.0) |
- |
weight -4.2 |
short |
- |
Dennis E. Bulman |
00001611 |
0000000782 |
- |
Unknown |
- |
- |
07y05m |
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 |
- |
paternal age 41y; 39w; weight 2550 (-1.8) |
- |
weight -5.3 |
normal |
- |
Dennis E. Bulman |
00001612 |
0000000783 |
- |
Unknown |
- |
- |
08y |
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) |
- |
paternal age 40y; 40w; weight 2030 (-3.1) |
- |
weight -0.7 |
short |
- |
Dennis E. Bulman |
00001613 |
0000000784 |
- |
Isolated (sporadic) |
- |
- |
11y |
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) |
- |
paternal age 40y; 40w; weight 2800g (-1.1) |
- |
height 139 (-0.6); weight 35 (0); OFC 53 (0) |
normal |
- |
Dennis E. Bulman |
00001614 |
0000000785 |
- |
Isolated (sporadic) |
- |
- |
07y05m |
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) |
- |
paternal age of 35y; 41w; weight 2730 (-1.5) |
- |
height 111 (-2.5); weight -1.4; OFC 51.5 (-0.5) |
short |
- |
Dennis E. Bulman |
00001615 |
0000000798 |
- |
Isolated (sporadic) |
- |
- |
- |
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 |
- |
42w1d; weight 3540g (30th); length 54cm (61th); OFC 37.5cm (86th) |
- |
- |
short |
- |
Dennis E. Bulman |
00001630 |
0000002029 |
- |
Isolated (sporadic) |
- |
- |
- |
lissencephaly, agenesis corpus callosum |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00003189 |
0000231252 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
32y |
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) |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00000205 |
0000231253 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
28y |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305403 |
0000231254 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
7y6m |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305404 |
0000231255 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
10y |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305405 |
0000231256 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
32y |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305406 |
0000231257 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
9y |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305407 |
0000231258 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
8y |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305408 |
0000231259 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
19y |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305409 |
0000231260 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
15y |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305410 |
0000231261 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
9y2m |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305411 |
0000231262 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
2y2m |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305412 |
0000231263 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
5y2m |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305413 |
0000231264 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
5y6m |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305414 |
0000231265 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
1y6m |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305415 |
0000231266 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
2y |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305416 |
0000231267 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
1y |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305417 |
0000231268 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
5y |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305418 |
0000231269 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
6y6m |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305419 |
0000231270 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
5y2m |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305420 |
0000231271 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
1y3m |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305421 |
0000231272 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
2y2m |
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 |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305422 |
0000231300 |
Floating-Harbor syndrome |
Familial, autosomal dominant |
- |
FLHS |
- |
see paper; ... |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305450 |
0000231301 |
Floating-Harbor syndrome |
Familial, autosomal dominant |
- |
FLHS |
- |
see paper; ... |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305451 |
0000231302 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305452 |
0000231303 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305453 |
0000231304 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305454 |
0000231305 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305455 |
0000231306 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305456 |
0000231307 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305457 |
0000231308 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305458 |
0000231309 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305459 |
0000231310 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305460 |
0000231311 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305461 |
0000231312 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305462 |
0000231313 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305463 |
0000231314 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305464 |
0000231315 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305465 |
0000231316 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305466 |
0000231317 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305467 |
0000231318 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305468 |
0000231319 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305469 |
0000231320 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305470 |
0000231321 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305471 |
0000231322 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305472 |
0000231323 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305473 |
0000231324 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305474 |
0000231325 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305475 |
0000231326 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305476 |
0000231327 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305477 |
0000231328 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305478 |
0000231329 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305479 |
0000231330 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305480 |
0000231331 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305481 |
0000231332 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305482 |
0000231333 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305483 |
0000231334 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305484 |
0000231335 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305485 |
0000231336 |
Floating-Harbor syndrome |
Isolated (sporadic) |
- |
FLHS |
- |
not specified, only summary data provided |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305486 |
0000231337 |
Floating-Harbor syndrome |
Familial, autosomal dominant |
- |
FLHS |
- |
see paper; ... |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305487 |
0000231338 |
Floating-Harbor syndrome |
Familial, autosomal dominant |
- |
FLHS |
- |
see paper; ... |
- |
- |
- |
- |
- |
- |
Johan den Dunnen |
00305488 |