Phenotypes for disease #00124

44 entries on 1 page. Showing entries 1 - 44.
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AscendingPhenotype 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
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