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
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
Age/Diagnosis: age diagnosis was confirmed
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)
Height-Weight-OFC: Height-Weight-OFC last visit (SDS)
Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Phenotype/Onset: individual's phenotype at Age/Onset described using HPO
Choanal_Stenosis: does the individual have choanal stenosis (HPO_0000452); present (+), absent (-), unknown (?), not analysed (n/a)
All options:
- + = present
- - = absent
- ? = unknown
- n/a = not analysed
Seizures: does individual have seizures (please specify)
All options:
- no = no seizures (-HP:0001250)
- seizures = seizures (HP:0001250)
- absence = absence seizures (HP:0002121)
- absence atypical = atypical absence seizures (HP:0007270)
- absence with eyelid myoclonia = absence seizures with eyelid myoclonia (HP:0011149)
- absence with special features = absence seizures with special features (HP:0011148)
- atonic (drop/astatic/hypotonic) = atonic seizures (drop, astatic, hypotonic) (HP:0010819)
- bilateral convulsive = bilateral convulsive seizures (HP:0007334)
- complex febrile = complex febrile seizures (HP:0011172)
- dacrystic = dacrystic seizures (HP:0010820)
- developmental stagnation = developmental stagnation at onset of seizures (HP:0006834)
- dialeptic = dialeptic seizures (HP:0011146)
- early onset absence = early onset absence seizures (HP:0011152)
- EEG = abnormal EEG (HP:0002353)
- febrile = febrile seizures (HP:0002373)
- focal = focal seizures (HP:0007359)
- focal afebrile = seizures, focal (partial), afebrile (HP:0040168)
- focal autonomic = focal autonomic seizures (HP:0011154)
- focal autonomic altered responsiveness = focal autonomic seizures with altered responsiveness (HP:0011155)
- focal autonomic no altered responsiveness = focal autonomic seizures without altered responsiveness (HP:0011156)
- focal clonic = focal clonic seizures (HP:0002266)
- focal complex = complex focal seizures with impairment of consciousness or awareness (HP:0002384)
- focal motor = focal motor seizures (HP:0011153)
- focal myoclonic = focal myoclonic seizures (HP:0011166)
- focal simple = focal seizures without impairment of consciousness or awareness (HP:0002349)
- focal tonic = focal tonic seizures (HP:0011167)
- gelastic = gelastic seizures (HP:0010821)
- generalized = generalized seizures (HP:0002197)
- generalized clonic = generalized clonic seizures (HP:0011169)
- generalized myoclonic = generalized myoclonic seizures (HP:0002123)
- generalized recurrent = generalized seizures, recurrent (HP:0002197)
- generalized tonic = generalized tonic seizures (HP:0010818)
- generalized tonic-clonic = seizures, generalized, tonic-clonic (HP:0002069)
- generalized tonic-clonic photosensitive = seizures, tonic-clonic, photosensitive (HP:0007207)
- generalized tonic-clonic awakening = generalized tonic-clonic seizures on awakening (HP:0007193)
- hemiclonic (unilateral clonic) = hemiclonic seizures (unilateral clonic) (HP:0006813)
- hemifacial = hemifacial seizures (HP:0007332)
- hyperkinetic = hyperkinetic seizures (HP:0011174)
- hypocalcemic = hypocalcemic seizures (HP:0002199)
- hypoglycemic = hypoglycemic seizures (HP:0002173)
- hypokinetic = hypokinetic seizures (HP:0011173)
- maternal = maternal seizures (HP:0100622)
- multifocal = multifocal seizures (HP:0031165)
- myoclonic atonic = myoclonic atonic seizures (HP:0011170)
- petit mal = petit mal seizures (HP:0011147)
- photomyoclonic = photomyoclonic seizures (HP:0001327)
- salaam = salaam seizures (HP:0011097)
- simple febrile = simple febrile seizures (HP:0011171)
- simple partial occipital = simple partial occipital seizures (HP:0011165)
- symptomatic = symptomatic seizures (HP:0011145)
- versive = versive seizures (HP:0011175)
- ? = unknown
- n/a = not analysed
Protein: result from protein staining

 Phenotype ID
|

 Diagnosis/Initial
|

 Inheritance
|

 Age/Onset
|

 Diagnosis/Definite
|

 Age/Examination
|

 Age/Diagnosis
|

 Birth_Details
|

 Height-Weight-OFC
|

 Phenotype details
|

 Phenotype/Onset
|

 Choanal_Stenosis
|

 Seizures
|

 Protein
|

 Owner
|

 Individual ID
|
0000000799 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
37w; weight 2150 (-2) |
normal; normal; -3.5 |
Paternal age of 35y; Birth head circumference of 30.5/-1.75SD; Malar hypoplasia; Micrognathia; Upslanting of the obliquity of palpebrae; Microtia; Preauricular tag; Conductive hearing loss; Choanal atresia; Need for neonatal resuscitation; Tracheostomy; Global developmental delay; Walking at 28m; Unable to talk at last assessment at 36m; Normal brain MRI; Gastrostomy; Metopic ridge; proximally placed thumb; Cryptorchidism and small scrotum |
- |
- |
- |
- |
Dennis E. Bulman |
00001633 |
0000000800 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
39w; weight 2400 (-2.5) |
71cm (-3); 8kg (-3.5); 43cm (-3) |
Paternal age of 26; Malar hypoplasia; Micrognathia; Downslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Sensorineural hearing loss; Bifid uvula; Need for neonatal resuscitation; Global developmental delay; Metopic ridge; Congenital heart defect(ASD); Proximally placed thumb; Crypotorchidism and small scrotum |
- |
- |
no |
- |
Johan den Dunnen |
00001634 |
0000000801 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
42w; weight 3180 (-1.5) |
122cm (-1); 24kg (0); 47cm (-3.5) |
Birth head circumference of 33cm/-2SD; Malar hypoplasia; Micrognathia; Upslanting obliquity of palpebrae; Lower-eyelid cleft; Microtia; Unilateral preauricular tags; Bilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Bilateral choanal atresia; Mild to moderate global developmental delay; Walking at 16m; Speaking at 24m; Delayed myelination at 15m; Metopic ridge; Congenital heart defect(ASD); Hypoplastic toenails and delayed bone age; Normal microarray fining |
- |
- |
seizures |
- |
Dennis E. Bulman |
00001637 |
0000000802 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
33w; weight 1500 (-1.5) |
118cm (-1); 24kg (0); 42.5cm (-6) |
Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Bilateral auditory canal atresia/ stenosis; Conductive hearing loss; Bilateral choanal atresia; Need for neonatal resuscitation; Moderate global developmental delay; Walking at 24m; First words at 30m; Mild peripheral pulmonic stenosis; 46,XX; Normal microarray findings |
- |
- |
seizures |
- |
Dennis E. Bulman |
00001635 |
0000000803 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
40w; weight 2610 (-2) |
87cm (-1.75); 13.4Kg (+0); 43.5cm (-4) |
IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX |
- |
- |
no |
- |
Dennis E. Bulman |
00001636 |
0000001396 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
41+3w; weight 3870 (+0.5) |
84cm (-0.25); 10.3kg (-2); 42cm (-5) |
Paternal age of 31y;Birth OFC of 32.5cm/-2SD; Malar hypoplasia; Micrognathia; downslanting obliquity of palpebrae; Microtia; Auditory canal atresia or stenosis; conductive hearing loss; bilateral choanal atresia; moderate global developmental delay; walking at 24m; 46,XX; normal microarray finding |
- |
- |
no |
- |
Dennis E. Bulman |
00002418 |
0000001397 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
weight 3500 |
151cm (-1.25); 38kg (-1.5); 50cm (-3) |
paternal age of 25y; full term gestation; Malar hypoplasia; Micrognathia; obliquity of palpebrae; Microtia; preauricula tags; midline cleft palate including submucous; severe global developmental delay; walking at 60m; mdtopic ridge; ASD; duplicated thumb; 46,XY |
- |
- |
seizures |
- |
Dennis E. Bulman |
00002419 |
0000001398 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
40w; weight 3000 (-1) |
89cm (-0.75); 12.7kg (-0.75); 44.5cm (-4) |
birth OFC of 33cm/-1SD; malar hypoplasia; micrognathia; level obliquity of palpebrae; lower-eyelid cleft; microtia; unilateral preauricular tags; bilateral auditory canal atresia or stenosis; conductive hearing loss; midline cleft palate including submucous; mild to moderate global developmental delay; walking at 19m; abnormal white matter on FLAIR; ASD; 46,XY; normal microarray findings |
- |
- |
seizures |
- |
Dennis E. Bulman |
00002420 |
0000001399 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
41+4w; weight 3330 (-1) |
69cm (-2); 6.72kg (-4); 39.8kg (-5) |
polyhydramnios; birth OFC of 31cm/-3.5SD; micrognathia; level obliquity of palpebrae; bilateral lower-eyelid cleft; unilateral auditory canal atresia or stenosis; conductive hearing loss; midline cleft palate including submucous; mild to moderate global developmental delay; ASD; 46,XX |
- |
- |
no |
- |
Dennis E. Bulman |
00002421 |
0000001400 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
42w; weight 3161 (-1.5) |
116.6cm (-1.5); 22.6kg (-3); 46.4cm (-3) |
increased NT; malar hypoplasia; micrognathia; level obliquity of palpebrae; unilateral preauricular tags; conductive hearing loss; bilateral choanal atresia; moderate global developmental delay; walking at 19m; metopic ridge; proximally placed thumb; 46,XY; normal microarray findings |
- |
- |
no |
- |
Dennis E. Bulman |
00002422 |
0000001401 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
weight 2850 (-1.25) |
117.4cm (0); 22.5kg (0); 43.8cm (-5) |
increased NT and microcephaly; birth OFC of 30cm/-3SD; malar hypoplasia; micrognathia; level obliquity of palpebrae; microtia; bilateral preauricular tags; unilateral auditory canal atresia or stenosis; conductive hearing loss; unilateral choanal atresia; mild global developmental delay; walking at 24m; first words at 20m; normal brain MRI; gastrostomy; proximally placed thumb; myopia; middle ear and vestibular hypoplasia; 46,XX |
- |
- |
no |
- |
Dennis E. Bulman |
00002423 |
0000001402 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
weight 3100 |
131cm (-1); 24kg (-2); 48cm (-3.5) |
paternal age of 28y; full term gestation; malar hypoplasia; micrognathia; one downslanting obliquity of palpebrae; microtia; preauricular tags; midline cleft palate including submucous; moderate to severe global developmental delay; walking at 17m; first words at 24m; mitopic ridge; 46,XY |
- |
- |
seizures |
- |
Dennis E. Bulman |
00002424 |
0000001403 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
40w; weight 3570 |
- |
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 |
- |
- |
? |
- |
Dennis E. Bulman |
00002426 |
0000001404 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
37-41w |
- |
polyhydramnios; birth length of 0/1.5SD; birth head circumference of -0.5/+0.5SD; weight at 8y of +2SD; length at 8y of +2SD; head circumference at 8y of -1SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; cleft palate; dysplastic external ears; unilateral preauricular tags; unilateral auditory canal atresia/stenosis; mixed hearing loss;hypermetropic astigmatism; moderate delayed psycho/motor develoment; oesophageal atresia; laryngeal diastema and asymptomatic bilateral vesico-ureteral reflux; |
- |
- |
- |
- |
Dennis E. Bulman |
00002427 |
0000001405 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
34w; weight (-1.5) |
- |
pre-eclampsia; polyhydramnios; birth head circumference of -1SD; weight at 5m of -3SD; head circumference at 5m of -3SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic cup-shaped external ears; unilateral preauricular tags; conductive hearing loss; moderate delayed psycho/motor development; patent ductus arteriosus; oesophageal atresia; unilateral pelvic kidney; 46,XY |
- |
- |
no |
- |
Dennis E. Bulman |
00002428 |
0000001406 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
36w; weight (-1) |
- |
hydramnios; birth head circumference of +0.5SD; weight at 13m of -2.5SD; height at 13m of -2.5SD; head circumference of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic low-set ears; unilateral preauricular tags; conductive hearing loss; moderate delayed psycho/motor development; ASD; oesophageal atresia; normal karyotype |
- |
- |
no |
- |
Dennis E. Bulman |
00002429 |
0000001407 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
36.5w; weight (-1.5) |
- |
IUGR; adult weight of 0SD; adult height of 0SD; adult head circumference of -2SD; facial asymmetry; mandibular hypoplasia; asymmetric dysplasia of external ears; moderate delayed psycho/motor development; 2/3 toe syndactyly; thenar hypoplasia; oesophageal atrisia type C; normal array-CGH (Agilent 105K); normal sequence of MYCN and MIR17HG genes |
- |
- |
- |
- |
Dennis E. Bulman |
00002430 |
0000001408 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
39w; weight (-1) |
- |
birth height<-2SD; birth head circumference of -3SD; weight at 10y of -2SD; height at 10y of -1SD; head circimference at 10y of -4SD; malar hypoplasia; mandibular hypoplasia; dysplastic ears; auditory canal atresia/stenosis; mixed hearing loss; mild delayed psycho/motor development; oesophageal atresia type C; cryptochidism; lacrymal duct stenosis; |
- |
- |
seizures |
- |
Dennis E. Bulman |
00002433 |
0000001409 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
35.5w; weight (<-2) |
- |
polyhydramnios; birth length of -1SD; birth head circumference<-2; weight at 8y of +1SD; height at 8y of +1SD; head circimference at 8y<-4SD; mild malr hypoplasia; mild mandibular hypoplasia; cleft palate(submucous); dysplastic external ears; conductive hearing loss; epicanthic folds; mild delayed psycho/motor development; oesophageal atresia type C; unilateral lateral semicircular canal agenesis; |
- |
- |
no |
- |
Dennis E. Bulman |
00002434 |
0000001411 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
35+4w; weight (-1) |
- |
polyhydramnios; birth height of 0SD; birth head circumference of -2SD; weight at 4y of +1SD; height at 4y of 0SD; head circumference at 4y of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic external ears; bilateral auditory canal atresia/stenosis; sensorineural hearing loss; moderate delayed psycho/motor development; oesophageal atresia; lateral semicircular canal agenesis |
- |
+ |
no |
- |
Dennis E. Bulman |
00002436 |
0000001412 |
- |
Unknown |
- |
- |
- |
- |
- |
- |
IUGR; weight at 11y of +1SD; height at 11y of +3SD; head circumference at 11y<-4SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; auditory canal stresia/stenosis; moderate delayed psycho/motor development; ASD; genital anomalies; tooth agenesis |
- |
+ |
no |
- |
Dennis E. Bulman |
00002437 |
0000001413 |
- |
Unknown |
- |
- |
- |
- |
41+3w; weight (-2) |
- |
birth height of -2SD; birth head circumference of -3SD; weight at 7y of +1SD; height at 7y of -1.5SD; head circumference at 7y of -2SD; malar hypoplasia; mandibular hypoplasia; microtia; unilateral auditory canal atresia/stenosis; sensorineural hearing loss; strabismus; moderate delayed psycho/motor development; pectus carinatum |
- |
- |
seizures |
- |
Dennis E. Bulman |
00002439 |
0000001414 |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
29.5w |
- |
termination of pregnancy at 29.5w; weight of -1SD; head circumference of -1.5SD; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; oesophageal atresia type C; delayed gyration and retro thyoid thymic residues |
- |
- |
- |
- |
Dennis E. Bulman |
00002442 |
0000001415 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
37-41w |
- |
birth height of 0/-1.5SD; adult weight of 0SD; adult height of -1SD; adult head circumference<-2SD; dysplastic external ears; unilateral preauricular tags; unilateral auditory canal atresia/stenosis; mixed hearing loss; milder delayed psycho/motor development; brachydactyly; abnormal semicircular canal |
- |
- |
no |
- |
Dennis E. Bulman |
00002443 |
0000001418 |
- |
Unknown |
- |
- |
- |
- |
38w; weight (-2) |
- |
polyhydramnios; IUGR; birth head circumference of 0SD; weight at 2.5y of +0.5SD; height at 2.5y of +1SD; head circumference at 2.5y of +1SD; cayler facial asymmetry; unilateral microtia; unilateral auditory canal atresia/stenosis; unilateral hearing loss; ASD; VSD; unilateral thumb hypoplasia; oesophageal atresia type C; abnormal ossicles and semicircular canals; agenesis of first cervical vertebrae; kyphoscoliosis and sacral dimple |
- |
- |
no |
- |
Dennis E. Bulman |
00002452 |
0000001419 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
weight 2693 (-2) |
- |
OFC of 51.8cm/-1SD; height of 137.6/-1SD; facial asymmetry; choanal atresia; left epibulbar dermoid; unilateral cleft of zygomatic arch; bilateral microtia (grade 3); bilateral preauricular skin tags; atretic external auditory canal; conductive hearing loss; normal inner ear; hypoplastic/dysplastic ossicles; mandibular hypoplasia; malar hypoplasia; micrognathia (asymmertric); bifid uvula; proximally placed thumb; normal cervical spine; cooperative personality; answer questions appropriately; no unusual behaviors; mild developmental delay |
- |
- |
no |
- |
Dennis E. Bulman |
00002456 |
0000001565 |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
41w; weight 3010 (-1.4) |
- |
polyhydramnios; birth height 51cm/-0.8SD; birth OFC 34cm/-0.6SD; height at 21y 158cm/-1.5SD; weight at 21y 63kg/0.5SD; OFC at 21y 51cm/-3.7SD; ID with IQ 75; walking at 16m; first word at 16m; upslanting palpebral fissures; microtia with squared earlobe; bilateral conductive hearing loss; reduced mouth opening; micrognathia; esophageal atresia; ASD; scoliosis; bilateral cleft of zygomatic bone; clinodactyly V |
- |
- |
no |
- |
Dennis E. Bulman |
00002602 |
0000001566 |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
34w; weight 2010 (-0.4) |
- |
polyhydramnios; weight at 8y7m 25kg/-2.4SD; height at 8y7m 128cm/-2.4SD; OFC at 8y7m 46cm/-5.9SD; severe ID; walking at 39m; microtia with squared earlobe; aplasia/hypoplasia of external ear canal; bilateral combined hearing loss; cleft palate; reduced mouth opening; micrognathia; tracheostomy; esophageal atresia; VSD; bilateral cleft of zygomatic bone |
- |
- |
no |
- |
Dennis E. Bulman |
00002603 |
0000001568 |
- |
Unknown |
- |
- |
- |
- |
weight (-1.5) |
- |
height at adulthood 165cm/-0.2SD; weight at adulthood 58kg/-1.0SD; OFC at adulthood 53.5cm/-1.0SD; facial asymmetry; nasal speech; reduced mouth opening; unilateral cleft of zygomatic bone |
- |
- |
no |
- |
Dennis E. Bulman |
00002604 |
0000001569 |
- |
Unknown |
- |
- |
- |
- |
40w; weight 2500 (-2.3) |
- |
polyhydramnios;birth height 48cm/-1.7SD; birth OFC 32cm/-2.2SD; Height at 8y 114.5cm/-2.6SD; weight at 8y21kg/-1.6SD; OFC at 8y 46cm/-5.5SD; mild ID; walking at 30m; first words at 36m; hyperplastic supraorbital ridges; frontal bossing upslanting palpebral fissures; microtia with squared earlobe; hypoplasia of external ear canal; bilateral conductive hearing loss; esophageal atresia; small middle ear cavity; abnormal malleolus |
- |
- |
no |
- |
Dennis E. Bulman |
00002606 |
0000001570 |
- |
Unknown |
- |
- |
- |
- |
40w; weight 4000 (1.3) |
- |
polyhydramnios; height at 2.5y 84.5cm/-1.91SD; weight at 2.5y 11kg/-1.3SD; OFC at 2.5y 43.4cm/-5.3SD; mild ID; walking at 24m; first words at 30m; hyperplastic supraorbital ridges; frontal bossing; upslanting palpebral fissures; microtia with squared earlobe; cleft palate; micrognathia; absence of middle ear pneum; hypoplasia of malleus and incus |
- |
- |
no |
- |
Dennis E. Bulman |
00002607 |
0000001582 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
40w; weight 3180 (-1.0) |
- |
polyhydramnios; birth height 52cm/-0.2SD; birth OFC 34cm/-1.2SD; height at 7y4m 126cm/0.1SD; weight at 7y4m 22.5kg/-0.6SD; OFC at 7y4m 47.5cm/-3.9SD; moderate ID; walking at 21m; words at 30m; upslanting palpebral ridges; microtia with squared earlobe; narrow external ear canal; cleft palate; micrognathia; esophageal atresia; VSD; bilateral cleft of zygomatic bone; |
- |
- |
no |
- |
Dennis E. Bulman |
00002621 |
0000001583 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
38w; weight 3600 (0.5) |
- |
birth height 49cm/-0.5SD; birth OFC 34cm/-0.4cm; height at 3.5y 98cm/0SD; weight at 3.5y 14.6kg/-0.2SD; 45cm/-3.3SD; moderate ID; walking at 36m; first words at 24m; hyperplastic supraorbital ridges; sloping forehead; microtia with squared earlobe; preauricular tag; preauricular pit; hypoplasia of external ear canal; hearing loss; reduced mouth opening; micrognathia; slightly proximal placed thumbs |
- |
- |
seizures |
- |
Dennis E. Bulman |
00002622 |
0000001592 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
37w; weight 2900 (0) |
- |
polyhydramnios; birth OFC 32.3cm/-1SD; height at 4.5y 100.7cm/-1.6SD; weight at 4.5y 18.2kg/1SD; OFC at 4.5y 46.6cm/-3.3SD; mild ID; walking at 18m; first words at 12m; mild facial asymmetry; down slanting palpebral fissures; microtia with squared earlobe; hypoplasia of exteral ear canal; conductive hearing loss; reduced mouth opening; micrognathia; tracheostomy; esophageal atresia; small middle ear cavity; normal cochlea and semicircular canals; 46,XX; normal FISH 22q; normal SNP array |
- |
+ |
no |
- |
Dennis E. Bulman |
00002629 |
0000010161 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
- |
Developmental delay, possible autism, microcephaly, dysmorphic features, spine abnormalities, sensorineural hearing loss |
- |
- |
- |
- |
Dennis E. Bulman |
00011460 |
0000010162 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
- |
microcephaly, facial asymmetry, acyanotic tetralogy of Fallot, history of small muscular ventricular septal defect, right aortic arch with mirror image branching, malformed right ear with hearing loss, bifid uvula, cleft soft palate |
- |
- |
- |
- |
Dennis E. Bulman |
00011461 |
0000034214 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
- |
see paper; born 36w gestation, intrauter-
ine growth retardation, ... |
- |
- |
- |
- |
Dennis E. Bulman |
00046331 |
0000082487 |
- |
Isolated (sporadic) |
- |
- |
08y |
- |
- |
- |
intellectual disability, speech delay, growth retardation, epilepsy, hypotonia, shorter fifth digits on hands, facial dysmorphism |
- |
- |
- |
- |
Jana Paderova |
00104572 |
0000121626 |
- |
Isolated (sporadic) |
- |
- |
67y |
- |
- |
- |
- |
- |
- |
- |
- |
Marc Cruts |
00149208 |
0000121632 |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Marc Cruts |
00149214 |
0000121961 |
- |
Isolated (sporadic) |
- |
- |
68y |
- |
- |
- |
- |
- |
- |
- |
- |
Marc Cruts |
00149546 |
0000121962 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Marc Cruts |
00149547 |
0000223295 |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
- |
born with normal birth parameters, uneventful pregnancy; micrognathia, anteverted ears, bulbous nasal tip, epicanthus; feeding difficulties, developed rapidly progressive postnatal microcephaly; 12m-head circumference -4 SD, premature closure metopic ridge; walk-21m, language delayed, attended school with special needs; normal hearing, MRI brain normal |
- |
- |
- |
- |
Huw Thomas |
00295671 |
0000230366 |
Cleft Palate, Pierre Robin Sequence |
Isolated (sporadic) |
00y00m |
MFDM |
00y02m |
00y04m |
39w4d, Vaginal Delivery, Apgars 9/9, 1 week NICU stay for cleft palate and poor feeding; Wt: 2.91 kg (10-25th) Lt: 50 cm (50th), FOC: 33 cm (25th) |
Weight: 4.4kg (10-25th percentile) Length: 56.1cm (50th percentile) Head circumference: 36cm (3rd percentile) |
Hypoplasia of the maxilla (HP:0000327)
Feeding difficulties HP:0011968
Preauricular skin tag HP:0000384
Mandibulofacial dysostosis HP:0005321
Postnatal microcephaly HP:0005484
Cleft palate HP:0000175
Hypertelorism HP:0000316
Facial Hemangioma: HP:0000329
Microretrognathia- HP:0000308
Underdeveloped Supraorbital ridges HP:0009891
Sloping forehead HP:0000340
Facial Asymmetry HP: 0000324
Clinodactyly of the 5th toe (B/L) HP0001864
Overlapping toes (B/L): HP:0001845
Cup, Simplified Ear (R only) HP:0000378 |
0m |
- |
no |
- |
Kate Mowrey |
00303257 |
0000232062 |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Sha Hong |
00306214 |
0000232063 |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Sha Hong |
00306214 |