| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (49.0%) |
28807869 |
A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome. Jamshidi J, Abdollahi S, Ghaedi H, Alehabib E, Tafakhori A, Alinaghi S, Chapi M, Johari AH, Darvish H. Eur J Med Genet. 2017;60(11):578-582. |
| Cryptorchidism Hand oligodactyly | ||
| SMOC1 | ||
| c|SUB|T|367|C | ||
| Adult Child Exons Females Homo sapiens Homozygote Male Missense Mutation Osteonectin Phenotype Protein Domain Waardenburg Syndrome | ||
| 2 (35.3%) |
24357125 |
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. Oehl-Jaschkowitz B, Vanakker OM, De Paepe A, Menten B, Martin T, Weber G, Christmann A, Krier R, Scheid S, McNerlan SE, McKee S, Tzschach A. Am J Med Genet A. 2014;164A(3):620-6. |
| Cryptorchidism Brachydactyly | ||
| ACTN1 ADAM21 ADAM21P1 CCDC177 COX16 DCAF5 ERH EXD2 GALNT16 PLEKHD1 SLC10A1 SLC39A9 SLC8A3 SMOC1 SRSF5 SUSD6 SYNJ2BP SYNJ2BP-COX16 | ||
| Brachydactyly Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 14 Congenital Heart Defects Facies Females Homo sapiens Infant Intellectual Disability Male Phenotype |
Total: 57
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000327 | Hypoplasia of the maxilla | Very frequent (99-80%) |
| HP:0000534 | Abnormal eyebrow morphology | Very frequent (99-80%) |
| HP:0000568 | Microphthalmia | Very frequent (99-80%) |
| HP:0000581 | Blepharophimosis | Very frequent (99-80%) |
| HP:0001163 | Abnormality of the metacarpal bones | Very frequent (99-80%) |
| HP:0001770 | Toe syndactyly | Very frequent (99-80%) |
| HP:0001852 | Sandal gap | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0002814 | Abnormality of the lower limb | Very frequent (99-80%) |
| HP:0002817 | Abnormality of the upper limb | Very frequent (99-80%) |
| HP:0005048 | Synostosis of carpal bones | Very frequent (99-80%) |
| HP:0006101 | Finger syndactyly | Very frequent (99-80%) |
| HP:0011220 | Prominent forehead | Very frequent (99-80%) |
| HP:0011478 | True anophthalmia | Very frequent (99-80%) |
| HP:0100240 | Synostosis of joints | Very frequent (99-80%) |
| HP:0000204 | Cleft upper lip | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0001162 | Postaxial hand polydactyly | Frequent (79-30%) |
| HP:0001172 | Abnormal thumb morphology | Frequent (79-30%) |
| HP:0001180 | Hand oligodactyly | Frequent (79-30%) |
| HP:0001215 | Camptodactyly of 2nd-5th fingers | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001849 | Foot oligodactyly | Frequent (79-30%) |
| HP:0002342 | Intellectual disability, moderate | Frequent (79-30%) |
| HP:0002982 | Tibial bowing | Frequent (79-30%) |
| HP:0003026 | Short long bone | Frequent (79-30%) |
| HP:0003038 | Fibular hypoplasia | Frequent (79-30%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0005736 | Short tibia | Frequent (79-30%) |
| HP:0007598 | Bilateral single transverse palmar creases | Frequent (79-30%) |
| HP:0008368 | Tarsal synostosis | Frequent (79-30%) |
| HP:0009748 | Large earlobe | Frequent (79-30%) |
| HP:0010864 | Intellectual disability, severe | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000085 | Horseshoe kidney | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0001522 | Death in infancy | Occasional (29-5%) |
| HP:0001572 | Macrodontia | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0001830 | Postaxial foot polydactyly | Occasional (29-5%) |
| HP:0002139 | Arrhinencephaly | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0003042 | Elbow dislocation | Occasional (29-5%) |
| HP:0005293 | Venous insufficiency | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0006487 | Bowing of the long bones | Occasional (29-5%) |
| HP:0010650 | Hypoplasia of the premaxilla | Occasional (29-5%) |
| HP:0011304 | Broad thumb | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0040185 | Macrothrombocytopenia | 1 |