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Prevalence (%) of clinical parameters based on data from 7 references describing 310 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Low set ears | integumentary | 100 % | 29760939 | 2022-11-09 | |
| Stenosis of round window | skeletal | 100 % | 29760939 | 2022-11-09 | |
| Stenosis of oval window | skeletal | 100 % | 19764023 | 2022-11-09 | |
| Downturned corners of mouth | integumentary | 100 % | 7200726 | 2022-11-09 | |
| Microphthalmia | skeletal | 100 % | 8832722 | 2022-11-09 | |
| Hearing loss | nervous | 100 % | 19764023 | 2022-11-09 | |
| Hearing loss | nervous | 100 % | 29760939 | 2022-11-09 | |
| Nasolacrimal duct stenosis | skeletal | 100 % | 8832722 | 2022-11-09 | |
| Nasolacrimal duct stenosis | skeletal | 100 % | 29760939 | 2022-11-09 | |
| Bifid nasal tip | integumentary | 100 % | 8832722 | 2022-11-09 | |
| Nasolacrimal duct stenosis | skeletal | 99 % | 36263936 | 2022-11-09 | |
| Zygomatic hypoplasia | skeletal | 98 % | 7747785 | 2022-11-09 | |
| Branchial cleft sinus defects | integumentary | 93 % | 29760939 | 2022-11-09 | |
| Ear malformation | skeletal | 91 % | 29760939 | 2022-11-09 | |
| Nasolacrimal duct stenosis | skeletal | 74 % | 7747785 | 2022-11-09 | |
| Micrognathia | skeletal | 66 % | 25325185 | 2022-11-09 | |
| Cleft lip or palate | skeletal | 66 % | 29760939 | 2022-11-09 | |
| Microphthalmia | skeletal | 64 % | 36263936 | 2022-11-09 | |
| Protruding lips | integumentary | 56 % | 8832722 | 2022-11-09 | |
| Low set ears | integumentary | 50 % | 25325185 | 2022-11-09 | |
| Dental abnormalities | skeletal | 50 % | 25325185 | 2022-11-09 | |
| Kidney cysts | urinary | 50 % | 29760939 | 2022-11-09 | |
| Cleft lip or palate | skeletal | 48 % | 7747785 | 2022-11-09 | |
| Intrauterine growth retardation | multi | 47 % | 7747785 | 2022-11-09 | |
| Alopecia | integumentary | 38 % | 7747785 | 2022-11-09 | |
| Short stature | skeletal | 38 % | 7747785 | 2022-11-09 | |
| Hypodontia | skeletal | 37 % | 7747785 | 2022-11-09 | |
| Hearing loss | nervous | 37 % | 7747785 | 2022-11-09 | |
| Preauricular pits | integumentary | 33 % | 7747785 | 2022-11-09 | |
| Cleft lip or palate | skeletal | 33 % | 8832722 | 2022-11-09 | |
| Upslanting palpebral fissures | skeletal | 33 % | 29760939 | 2022-11-09 | |
| Graying of hair | integumentary | 33 % | 8832722 | 2022-11-09 | |
| Developmental delay | nervous | 33 % | 7747785 | 2022-11-09 | |
| Strabismus | nervous | 31 % | 7747785 | 2022-11-09 | |
| Microphthalmia | skeletal | 31 % | 7747785 | 2022-11-09 | |
| Ptosis | integumentary | 28 % | 7747785 | 2022-11-09 | |
| Myopia | nervous | 28 % | 29760939 | 2022-11-09 | |
| Polydactyly | skeletal | 25 % | 25325185 | 2022-11-09 | |
| Contracture | skeletal | 25 % | 25325185 | 2022-11-09 | |
| Lung dysplasia | respiratory | 25 % | 25325185 | 2022-11-09 | |
| Hearing loss | nervous | 25 % | 25325185 | 2022-11-09 | |
| Cleft lip or palate | skeletal | 25 % | 25325185 | 2022-11-09 | |
| Anopthalmia | skeletal | 25 % | 25325185 | 2022-11-09 | |
| Cataract | nervous | 24 % | 29760939 | 2022-11-09 | |
| Graying of hair | integumentary | 24 % | 7747785 | 2022-11-09 | |
| Dolichocephaly | skeletal | 23 % | 7747785 | 2022-11-09 | |
| Clinodactyly | skeletal | 21 % | 29760939 | 2022-11-09 | |
| Microphthalmia | skeletal | 20 % | 29760939 | 2022-11-09 | |
| Kidney cysts | urinary | 16 % | 7747785 | 2022-11-09 | |
| Preauricular tags | integumentary | 14 % | 29760939 | 2022-11-09 | |
| Hemangiomatous branchial cleft | integumentary | 13 % | 7747785 | 2022-11-09 | |
| Hydronephrosis | urinary | 11 % | 7747785 | 2022-11-09 | |
| Renal agenesis | urinary | 11 % | 7747785 | 2022-11-09 | |
| Vesico-urethral reflux | urinary | 11 % | 7747785 | 2022-11-09 | |
| Scalp cysts | skeletal | 11 % | 29760939 | 2022-11-09 | |
| Brachydactyly | skeletal | 11 % | 7747785 | 2022-11-09 | |
| Lip pits | integumentary | 10 % | 29760939 | 2022-11-09 | |
| Mental retardation | nervous | 8 % | 7747785 | 2022-11-09 | |
| Anopthalmia | nervous | 7 % | 7747785 | 2022-11-09 | |
| Hypertrichosis | integumentary | 7 % | 7747785 | 2022-11-09 | |
| Hypertelorism | skeletal | 7 % | 7747785 | 2022-11-09 | |
| Orbital cyst | skeletal | 5 % | 7747785 | 2022-11-09 | |
| Broad nasal bridge | skeletal | 5 % | 7747785 | 2022-11-09 | |
| Nail dystrophy | integumentary | 2 % | 7747785 | 2022-11-09 |
List of references:
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Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?
E Richardson, C Davison, A T Moore,
Ophthalmic genetics - Jun 1996
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Further delineation of the branchio-oculo-facial syndrome.
A E Lin, R J Gorlin, I W Lurie, H G Brunner, I van der Burgt, I V Naumchik, N V Rumyantseva, S Stengel-Rutkowski, K Rosenbaum, P Meinecke,
American journal of medical genetics - Mar 1995
Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.
Hannah L Titheradge, Chirag Patel, Nicola K Ragge,
Clinical dysmorphology - Jan 2015