| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (47.6%) |
23952617 |
Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome. Abu-Amero KK, Kondkar AA, Al Otaibi A, Alorainy IA, Khan AO, Hellani AM, Oystreck DT, Bosley TM. Ophthalmic Genet. 2015;36(1):14-20. |
| Prominent forehead Clinodactyly | ||
| CHN1 HOXA1 KIF21A KIR3DL2 SALL4 | ||
| Child Chromosomes, Human, Pair 19 DNA-Binding Proteins Duane Retraction Syndrome Females Homeodomain Proteins Homo sapiens Kinesin Magnetic Resonance Imaging Polymerase Chain Reaction Receptors, Steroid Thyroid Hormone Receptor Trisomy | ||
| 2 (44.3%) |
11955935 |
Paradoxical eyelid movement in trisomy 2p. Ishikawa T, Inukai K, Kanayama M. Pediatr Neurol. 2002;26(3):236-8. |
| Kyphoscoliosis Cleft lip | ||
| Chromosomes, Human, Pair 2 Differential Diagnosis Duane Retraction Syndrome Eyelid Diseases Females Homo sapiens Infant, Newborn Movement Disorders Trisomy | ||
| 3 (40.2%) |
9409870 |
Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies. Jonas RE, Kimonis VE, Morales A. Am J Med Genet. 1997;73(2):184-8. |
| Frontal bossing | ||
| Child, Preschool Corpus Callosum Craniofacial Abnormalities Developmental Disabilities Females Genes, Recessive Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Nerve Tissue Nuclear Family Syndrome | ||
| 4 (38.3%) |
8749054 |
Duane retraction syndrome associated with Rubinstein-Taybi syndrome. Cruz OA, Mason DM, Eswara MS, Lueder GT. Ophthalmic Genet. 1995;16(4):171-5. |
| Short stature Broad thumb | ||
| Child Duane Retraction Syndrome Females Homo sapiens Rubinstein-Taybi Syndrome | ||
| 5 (37.2%) |
16988622 |
[Ocular coloboma associated with cervico-oculo-acoustic syndrome]. Kamoun R, Kria L, Erraies K, Anane R, Meddeb Ouertani A. J Fr Ophtalmol. 2006;29(7):e16. |
| Short neck | ||
| Deafness Duane Retraction Syndrome Females Homo sapiens Infant Klippel-Feil Syndrome | ||
| 6 (35.3%) |
17280850 |
Bilateral incyclotorsion, absent facial nerve, and anotia: fellow travelers in Mobius sequence or oculoauriculovertebral spectrum? Pandey PK, Shroff D, Kapoor S, Kaur N, Srivastava N, Jain P, Garg D. J AAPOS. 2007;11(3):310-2. |
| Facial palsy | ||
| Adult Duane Retraction Syndrome External Ear Facial Nerve Diseases Goldenhar Syndrome Homo sapiens Magnetic Resonance Imaging Male Mobius Syndrome | ||
| 7 (33.7%) |
22258531 |
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, Girard M, Tournaire M, Jorgensen C, Morin D, Sarda P, Lefort G, Genevieve D. Eur J Hum Genet. 2012;20(5):580-3. |
| Full cheeks Smooth philtrum | ||
| CA8 CHD7 CLVS1 RAB2A | ||
| Child, Preschool Chromosomal Duplication Chromosomes, Human, Pair 8 Developmental Disabilities Duane Retraction Syndrome Homo sapiens Male Phenotype | ||
| 8 (31.0%) |
24001015 |
Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. Abu-Amero KK, Kondkar A, Hellani AM, Oystreck DT, Khan AO, Bosley TM. Ophthalmic Genet. 2015;36(2):99-104. |
| Low-set ears Clinodactyly | ||
| CHN1 CHRNB3 EEF1B2P2 HOXA1 KIF21A SALL4 TUBB3 | ||
| Chromosomes, Human, Pair 8 DNA Mutational Analysis Duane Retraction Syndrome Females Fingers Gestational Age Homo sapiens Monosomy Mutation Nicotinic Receptors Palate Phenotype Polymerase Chain Reaction | ||
| 8 (31.0%) |
17322606 |
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. Jethani J, Parija S, Shetty S, Vijayalakshmi P. Indian J Ophthalmol. 2007;55(2):139-41. |
| Hypogonadism Polydactyly | ||
| SRPX | ||
| Bardet-Biedl Syndrome Child Differential Diagnosis Duane Retraction Syndrome Electroretinography Eye Movements Homo sapiens Male Ophthalmoscopy Visual Fields | ||
| 10 (30.8%) |
29779709 |
A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. Sato Y, Tsukaguchi H, Morita H, Higasa K, Tran MTN, Hamada M, Usui T, Morito N, Horita S, Hayashi T, Takagi J, Yamaguchi I, Nguyen HT, Harada M, Inui K, Maruta Y, Inoue Y, Koiwa F, Sato H, Matsuda F, Ayabe S, Mizuno S, Sugiyama F, Takahashi S, Yoshimura A. Kidney Int. 2018;94(2):396-407. |
| Focal segmental glomerulosclerosis Narrow palpebral fissure | ||
| MAFB | ||
| p|SUB|L|239|P | ||
| Adult Age of Onset Amino Acid Substitution Animals Child Duane Retraction Syndrome Females Heterozygote Homo sapiens Kidney Failure, Chronic MafB Transcription Factor Male Mus Mutation Podocytes Protein Domain Sequence Homology, Amino Acid Young Adult |
Total: 55
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000486 | Strabismus | Very frequent (99-80%) |
| HP:0000496 | Abnormality of eye movement | Very frequent (99-80%) |
| HP:0012246 | Oculomotor nerve palsy | Very frequent (99-80%) |
| HP:0012745 | Short palpebral fissure | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000490 | Deeply set eye | Frequent (79-30%) |
| HP:0000581 | Blepharophimosis | Frequent (79-30%) |
| HP:0002162 | Low posterior hairline | Frequent (79-30%) |
| HP:0005640 | Abnormal vertebral segmentation and fusion | Frequent (79-30%) |
| HP:0000086 | Ectopic kidney | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000232 | Everted lower lip vermilion | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000384 | Preauricular skin tag | Occasional (29-5%) |
| HP:0000402 | Stenosis of the external auditory canal | Occasional (29-5%) |
| HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
| HP:0000465 | Webbed neck | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000482 | Microcornea | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000526 | Aniridia | Occasional (29-5%) |
| HP:0000567 | Chorioretinal coloboma | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000615 | Abnormal pupil morphology | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000643 | Blepharospasm | Occasional (29-5%) |
| HP:0000646 | Amblyopia | Occasional (29-5%) |
| HP:0001053 | Hypopigmented skin patches | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001177 | Preaxial hand polydactyly | Occasional (29-5%) |
| HP:0001199 | Triphalangeal thumb | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001357 | Plagiocephaly | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002984 | Hypoplasia of the radius | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
| HP:0003298 | Spina bifida occulta | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0003974 | Absent radius | Occasional (29-5%) |
| HP:0007400 | Irregular hyperpigmentation | Occasional (29-5%) |
| HP:0007766 | Optic disc hypoplasia | Occasional (29-5%) |
| HP:0007818 | Central heterochromia | Occasional (29-5%) |
| HP:0007990 | Hypoplastic iris stroma | Occasional (29-5%) |
| HP:0008572 | External ear malformation | Occasional (29-5%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Occasional (29-5%) |
| HP:0011365 | Patchy hypopigmentation of hair | Occasional (29-5%) |
| HP:0011386 | Narrow internal auditory canal | Occasional (29-5%) |
| HP:0012385 | Camptodactyly | Occasional (29-5%) |
| HP:0012732 | Anorectal anomaly | Occasional (29-5%) |
Total: 58
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000486 | Strabismus | 6 |
| HP:0000508 | Ptosis | 6 |
| HP:0000565 | Esotropia | 6 |
| HP:0000577 | Exotropia | 5 |
| HP:0000369 | Low-set ears | 2 |
| HP:0000589 | Coloboma | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0025068 | Incomitant strabismus | 2 |
| HP:0030084 | Clinodactyly | 2 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000458 | Anosmia | 1 |
| HP:0000478 | Abnormality of the eye | 1 |
| HP:0000482 | Microcornea | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000537 | Epicanthus inversus | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0000563 | Keratoconus | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000602 | Ophthalmoplegia | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000612 | Iris coloboma | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000646 | Amblyopia | 1 |
| HP:0000661 | Palpebral fissure narrowing on adduction | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001093 | Optic nerve dysplasia | 1 |
| HP:0001100 | Heterochromia iridis | 1 |
| HP:0001137 | Alternating esotropia | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001302 | Pachygyria | 1 |
| HP:0001488 | Bilateral ptosis | 1 |
| HP:0002277 | Horner syndrome | 1 |
| HP:0002373 | Febrile seizures | 1 |
| HP:0002516 | Increased intracranial pressure | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002888 | Ependymoma | 1 |
| HP:0002949 | Fused cervical vertebrae | 1 |
| HP:0006824 | Cranial nerve paralysis | 1 |
| HP:0006946 | Recurrent meningitis | 1 |
| HP:0009900 | Unilateral deafness | 1 |
| HP:0010628 | Facial palsy | 1 |
| HP:0011220 | Prominent forehead | 1 |
| HP:0011349 | Abducens palsy | 1 |
| HP:0012246 | Oculomotor nerve palsy | 1 |
| HP:0012486 | Myelitis | 1 |
| HP:0020041 | Double elevator palsy | 1 |
| HP:0030011 | Imperforate hymen | 1 |
| HP:0030025 | Auricular pit | 1 |
| HP:0031613 | Inferior chorioretinal coloboma | 1 |
| HP:0031721 | Sensory exotropia | 1 |
| HP:0045025 | Narrow palpebral fissure | 1 |
| HP:0100014 | Epiretinal membrane | 1 |
| HP:0500043 | Eyelid retraction | 1 |
| HP:0500074 | Dissociated vertical deviation | 1 |