| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (52.2%) |
28988429 |
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. Taskiran EZ, Karaosmanoglu B, Kosukcu C, Dogan OA, Taylan-ekeroglu H, imsek-Kiper PO, Utine EG, Boduroglu K, Alikasifoglu M. Am J Med Genet A. 2017;173(12):3143-3152. |
| Broad forehead Thick eyebrow Impacted tooth Cutaneous syndactyly | ||
| c|INDEL|1116_1117|GATCATCAG rs1555514463 | ||
| Cadherins Cell Proliferation Child Child, Preschool Craniofacial Abnormalities Females Homo sapiens Homozygote INDEL Mutation Intellectual Disability Loss of Function Mutation Osteogenesis Single Nucleotide Polymorphism Syndrome Whole Exome Sequencing | ||
| 2 (40.2%) |
20949527 |
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance. Castori M, Cascone P, Valiante M, Laino L, Iannetti G, Hennekam RC, Grammatico P. Am J Med Genet A. 2010;152A(11):2810-5. |
| Brachycephaly Facial asymmetry | ||
| Adult Child, Preschool Females Genes, Recessive Homo sapiens Infant, Newborn Male Middle Aged Pregnancy Syndrome | ||
| 3 (39.6%) |
29271567 |
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. Harms FL, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K, Alkuraya FS. Am J Med Genet A. 2018;176(2):477-482. |
| Hypospadias Facial asymmetry Upper eyelid coloboma | ||
| CDH11 | ||
| rs1555515331 rs1555515924 | ||
| Animals Bone Diseases, Developmental Branchial Region Cadherins Child, Preschool Females Genitalia Homo sapiens Intellectual Disability Male Mice, Knockout Mus |
Total: 55
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000054 | Micropenis | Very frequent (99-80%) |
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000176 | Submucous cleft hard palate | Very frequent (99-80%) |
| HP:0000193 | Bifid uvula | Very frequent (99-80%) |
| HP:0000248 | Brachycephaly | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000303 | Mandibular prognathia | Very frequent (99-80%) |
| HP:0000307 | Pointed chin | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000327 | Hypoplasia of the maxilla | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000455 | Broad nasal tip | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000486 | Strabismus | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000607 | Periorbital wrinkles | Very frequent (99-80%) |
| HP:0000664 | Synophrys | Very frequent (99-80%) |
| HP:0000670 | Carious teeth | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Very frequent (99-80%) |
| HP:0000808 | Penoscrotal hypospadias | Very frequent (99-80%) |
| HP:0002342 | Intellectual disability, moderate | Very frequent (99-80%) |
| HP:0002553 | Highly arched eyebrow | Very frequent (99-80%) |
| HP:0002679 | Abnormality of the sella turcica | Very frequent (99-80%) |
| HP:0002684 | Thickened calvaria | Very frequent (99-80%) |
| HP:0002714 | Downturned corners of mouth | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0008516 | Abnormality of the vertebral spinous processes | Very frequent (99-80%) |
| HP:0009748 | Large earlobe | Very frequent (99-80%) |
| HP:0009907 | Attached earlobe | Very frequent (99-80%) |
| HP:0010299 | Abnormality of dentin | Very frequent (99-80%) |
| HP:0010724 | Advanced pneumatization of the mastoid process | Very frequent (99-80%) |
| HP:0010749 | Blepharochalasis | Very frequent (99-80%) |
| HP:0011072 | Rootless teeth | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0100334 | Unilateral cleft palate | Very frequent (99-80%) |
| HP:0430026 | Abnormality of the shape of the midface | Very frequent (99-80%) |
| HP:0000233 | Thin vermilion border | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000410 | Mixed hearing impairment | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0001363 | Craniosynostosis | Frequent (79-30%) |
| HP:0003319 | Abnormality of the cervical spine | Frequent (79-30%) |
| HP:0003423 | Thoracolumbar kyphoscoliosis | Frequent (79-30%) |
| HP:0006480 | Premature loss of teeth | Frequent (79-30%) |
| HP:0000071 | Ureteral stenosis | Occasional (29-5%) |
| HP:0000625 | Eyelid coloboma | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0000042 | Absent external genitalia | Very rare (4-1%) |
| HP:0001537 | Umbilical hernia | Very rare (4-1%) |
| HP:0001545 | Anteriorly placed anus | Very rare (4-1%) |
| HP:0002561 | Absent nipple | Very rare (4-1%) |
| HP:0002836 | Bladder exstrophy | Very rare (4-1%) |
| HP:0009814 | Upper limb peromelia | Very rare (4-1%) |
| HP:0009818 | Amelia involving the lower limbs | Very rare (4-1%) |
Total: 9
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000047 | Hypospadias | 2 |
| HP:0000316 | Hypertelorism | 2 |
| HP:0000324 | Facial asymmetry | 2 |
| HP:0000248 | Brachycephaly | 1 |
| HP:0000337 | Broad forehead | 1 |
| HP:0000520 | Proptosis | 1 |
| HP:0000577 | Exotropia | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0011120 | Concave nasal ridge | 1 |