Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
10 (31.0%) |
11152153 |
Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome. McGaughran J. Clin Dysmorphol. 2001;10(1):67-8. |
White forelock Preaxial polydactyly | ||
Branchio-Oto-Renal Syndrome Homo sapiens India Infant Male New Zealand Piebaldism Polydactyly Skin Abnormalities | ||
10 (31.0%) |
7573150 |
Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes. Sayli BS, Akarsu AN, Altan S. Am J Med Genet. 1995;58(1):18-20. |
Anophthalmia Syndactyly | ||
Child Differential Diagnosis Fingers Homo sapiens Male Toes Waardenburg Syndrome | ||
10 (31.0%) |
6322092 |
Waardenburg syndrome with associated multiple anomalies. Zelig S, Deutsch E, Eilon A. ORL J Otorhinolaryngol Relat Spec. 1984;46(1):34-7. |
Syndactyly | ||
Child, Preschool Dacryocystitis Females Homo sapiens Syndactyly Waardenburg Syndrome | ||
14 (30.8%) |
30314436 (6186106) |
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report. Choi EY, Choi W, Lee CS. BMC Ophthalmol. 2018;18(1):266. |
Telecanthus | ||
PAX3 | ||
Adult DNA DNA Mutational Analysis Fluorescein Angiography Homo sapiens Male Mutation PAX3 Transcription Factor Retinal Artery Occlusion Retinal Vein Occlusion South Korea Tomography, Optical Coherence Visual Acuity Waardenburg Syndrome | ||
14 (30.8%) |
26114849 (4532278) |
Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome. Choudhry N, Rao RC. Ophthalmic Surg Lasers Imaging Retina. 2015;46(6):670-3. |
Telecanthus | ||
Choroid Diseases Craniofacial Abnormalities Females Fluorescein Angiography Homo sapiens Iris Diseases Middle Aged Multimodal Imaging Pigmentation Disorders Tomography, Optical Coherence Waardenburg Syndrome | ||
14 (30.8%) |
23471332 |
[Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports]. Nasser LS, Paranaiba LM, Frota AC, Gomes A, Versiani G, Martelli Junior H. Arq Bras Oftalmol. 2012;75(5):352-5. |
Telecanthus | ||
Adult Child, Preschool Eye Diseases, Hereditary Females Genetic Predisposition to Disease Homo sapiens Male Middle Aged Visual Acuity Waardenburg Syndrome | ||
14 (30.8%) |
7098370 |
[Waardenburg syndrome type I--autosomal dominant hereditary combination of multiple facial anomalies with cochlear deafness (author's transl)]. Meinecke P. Klin Padiatr. 1982;194(2):112-6. |
Telecanthus | ||
Child Child, Preschool Deafness Females Hair Color Homo sapiens Male Waardenburg Syndrome | ||
18 (29.4%) |
23121842 |
Waardenburg syndrome--a case report. Bansal Y, Jain P, Goyal G, Singh M, Mishra C. Cont Lens Anterior Eye. 2013;36(1):49-51. |
Synophrys | ||
Child Cornea Differential Diagnosis Females Genetic Predisposition to Disease Homo sapiens Waardenburg Syndrome | ||
18 (29.4%) |
18348267 |
A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. Sznajer Y, Coldea C, Meire F, Delpierre I, Sekhara T, Touraine RL. Am J Med Genet A. 2008;146A(8):1038-41. |
Synophrys | ||
SOX10 | ||
c|SUB|A|698-2|C;RS#:397515370 rs397515370 | ||
Child, Preschool DNA-Binding Proteins Genotype High Mobility Group Proteins Hirschsprung Disease Homo sapiens Male Mutation Phenotype SOXE Transcription Factors Sequence Analysis, DNA Severity of Illness Index Waardenburg Syndrome | ||
18 (29.4%) |
16156914 |
Cochlear implantation in children with Waardenburg syndrome. Daneshi A, Hassanzadeh S, Farhadi M. J Laryngol Otol. 2005;119(9):719-23. |
Synophrys | ||
Child Child, Preschool Cochlear Implants Females Homo sapiens Male Retrospective Studies Speech Discrimination Tests Speech Perception Waardenburg Syndrome |
Total: 30
HPO ID | Term | Frequency |
---|---|---|
HP:0000365 | Hearing impairment | Very frequent (99-80%) |
HP:0000405 | Conductive hearing impairment | Very frequent (99-80%) |
HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
HP:0000504 | Abnormality of vision | Very frequent (99-80%) |
HP:0000664 | Synophrys | Very frequent (99-80%) |
HP:0001000 | Abnormality of skin pigmentation | Very frequent (99-80%) |
HP:0001053 | Hypopigmented skin patches | Very frequent (99-80%) |
HP:0001100 | Heterochromia iridis | Very frequent (99-80%) |
HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
HP:0002216 | Premature graying of hair | Very frequent (99-80%) |
HP:0005599 | Hypopigmentation of hair | Very frequent (99-80%) |
HP:0000153 | Abnormality of the mouth | Frequent (79-30%) |
HP:0000159 | Abnormal lip morphology | Frequent (79-30%) |
HP:0000271 | Abnormality of the face | Frequent (79-30%) |
HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
HP:0000506 | Telecanthus | Frequent (79-30%) |
HP:0000534 | Abnormal eyebrow morphology | Frequent (79-30%) |
HP:0000632 | Lacrimation abnormality | Frequent (79-30%) |
HP:0002211 | White forelock | Frequent (79-30%) |
HP:0000130 | Abnormality of the uterus | Occasional (29-5%) |
HP:0000142 | Abnormal vagina morphology | Occasional (29-5%) |
HP:0000202 | Oral cleft | Occasional (29-5%) |
HP:0000508 | Ptosis | Occasional (29-5%) |
HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
HP:0002475 | Myelomeningocele | Occasional (29-5%) |
HP:0005214 | Intestinal obstruction | Occasional (29-5%) |
HP:0011024 | Abnormality of the gastrointestinal tract | Occasional (29-5%) |
HP:0100811 | Aplasia/Hypoplasia of the colon | Occasional (29-5%) |
Total: 48
HPO ID | Term | # of case reports |
---|---|---|
HP:0000528 | Anophthalmia | 3 |
HP:0001045 | Vitiligo | 3 |
HP:0001100 | Heterochromia iridis | 3 |
HP:0000506 | Telecanthus | 2 |
HP:0000568 | Microphthalmia | 2 |
HP:0001022 | Albinism | 2 |
HP:0001159 | Syndactyly | 2 |
HP:0009830 | Peripheral neuropathy | 2 |
HP:0000126 | Hydronephrosis | 1 |
HP:0000365 | Hearing impairment | 1 |
HP:0000488 | Retinopathy | 1 |
HP:0000508 | Ptosis | 1 |
HP:0000546 | Retinal degeneration | 1 |
HP:0000555 | Leukocoria | 1 |
HP:0000577 | Exotropia | 1 |
HP:0000635 | Blue irides | 1 |
HP:0000646 | Amblyopia | 1 |
HP:0000664 | Synophrys | 1 |
HP:0000822 | Hypertension | 1 |
HP:0000951 | Abnormality of the skin | 1 |
HP:0001271 | Polyneuropathy | 1 |
HP:0001288 | Gait disturbance | 1 |
HP:0001305 | Dandy-Walker malformation | 1 |
HP:0001332 | Dystonia | 1 |
HP:0001601 | Laryngomalacia | 1 |
HP:0002019 | Constipation | 1 |
HP:0002023 | Anal atresia | 1 |
HP:0002211 | White forelock | 1 |
HP:0002216 | Premature graying of hair | 1 |
HP:0002290 | Poliosis | 1 |
HP:0002414 | Spina bifida | 1 |
HP:0002444 | Hypothalamic hamartoma | 1 |
HP:0002861 | Melanoma | 1 |
HP:0004322 | Short stature | 1 |
HP:0005214 | Intestinal obstruction | 1 |
HP:0007033 | Cerebellar dysplasia | 1 |
HP:0007110 | Central hypoventilation | 1 |
HP:0007443 | Partial albinism | 1 |
HP:0007730 | Iris hypopigmentation | 1 |
HP:0007894 | Hypopigmentation of the fundus | 1 |
HP:0009916 | Anisocoria | 1 |
HP:0011286 | Total colonic aganglionosis | 1 |
HP:0012165 | Oligodactyly | 1 |
HP:0012245 | Sex reversal | 1 |
HP:0012450 | Chronic constipation | 1 |
HP:0012636 | Retinal vein occlusion | 1 |
HP:0030721 | Tetraphocomelia | 1 |
HP:0410030 | Cleft lip | 1 |
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|