| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.5%) |
18950500 (2579916) |
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report. Al Kaissi A, Ganger R, Klaushofer K, Grill F. Cases J. 2008;1(1):270. |
| Glossoptosis Micrognathia | ||
| 2 (58.0%) |
813535 |
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. Haller JO, Berdon WE, Robinow M, Slovis TL, Baker DH, Johnson GF. Am J Roentgenol Radium Ther Nucl Med. 1975;125(4):936-43. |
| Micrognathia Dumbbell-shaped femur | ||
| rs750006299 rs797044915 | ||
| Differential Diagnosis Dwarfism Females Growth Homo sapiens Infant, Newborn Male Micrognathism Mucopolysaccharidosis VI Osteochondrodysplasias Pierre Robin Syndrome Pregnancy Terminology as Topic | ||
| 3 (32.7%) |
7064999 |
The Weissenbacher-Zweymuller syndrome: possible neonatal expression of the Stickler syndrome. Kelly TE, Wells HH, Tuck KB. Am J Med Genet. 1982;11(1):113-9. |
| Myopia Dumbbell-shaped femur | ||
| Adult Bone and Bones Child, Preschool Females Genes, Dominant Homo sapiens Infant, Newborn Male Micrognathism Middle Aged Myopia Retinal Diseases Syndrome Terminology as Topic | ||
| 3 (32.7%) |
1415350 |
Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia. Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L. Am J Med Genet. 1992;43(6):989-95. |
| Retinal detachment Skeletal dysplasia Metaphyseal widening | ||
| Bone Diseases, Developmental Child Child, Preschool Dwarfism Females Genes, Recessive Homo sapiens Male Phenotype Syndrome | ||
| 5 (27.8%) |
1358786 |
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. Bonaventure J, Philippe C, Plessis G, Vigneron J, Lasselin C, Maroteaux P, Gilgenkrantz S. Hum Genet. 1992;90(1-2):164-8. |
| Pierre-Robin sequence | ||
| COL2A1 | ||
| Dwarfism Face Females Glaucoma Homo sapiens Infant Infant, Newborn Male Micrognathism Myopia Retinal Detachment Syndrome | ||
| 6 (21.2%) |
8456835 |
Identical twins with Weissenbacher-Zweymuller syndrome and neural tube defect. Ramer JC, Eggli K, Rogan PK, Ladda RL. Am J Med Genet. 1993;45(5):614-8. |
| Myopia Skeletal dysplasia | ||
| Child, Preschool Diseases in Twins Homo sapiens Male Myopia Neural Tube Defects Osteochondrodysplasias Phenotype Syndrome |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000162 | Glossoptosis | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000277 | Abnormality of the mandible | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000405 | Conductive hearing impairment | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000545 | Myopia | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0000752 | Hyperactivity | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0002194 | Delayed gross motor development | Very frequent (99-80%) |
| HP:0003016 | Metaphyseal widening | Very frequent (99-80%) |
| HP:0003097 | Short femur | Very frequent (99-80%) |
| HP:0003417 | Coronal cleft vertebrae | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Very frequent (99-80%) |
| HP:0008587 | Mild neurosensory hearing impairment | Very frequent (99-80%) |
| HP:0008905 | Rhizomelia | Very frequent (99-80%) |
| HP:0008936 | Muscular hypotonia of the trunk | Very frequent (99-80%) |
| HP:0011819 | Submucous cleft soft palate | Very frequent (99-80%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000926 | Platyspondyly | 1 |
| HP:0003016 | Metaphyseal widening | 1 |