| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (31.0%) |
9188655 |
Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: a new multiple malformation syndrome. Freihofer HP, Walji S, Brunner HG. Am J Med Genet. 1997;70(3):211-5. |
| Syndactyly | ||
| Bone and Bones Cleft Palate Ectodermal Dysplasia Females Homo sapiens Intellectual Disability Skin Abnormalities Syndactyly Syndrome | ||
| 1 (31.0%) |
2167611 |
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. Rodini ES, Richieri-Costa A. Am J Med Genet. 1990;36(4):473-6. |
| Syndactyly | ||
| Child, Preschool Cleft Palate Ectodermal Dysplasia Females Genes, Recessive Homo sapiens Intellectual Disability Male Syndactyly Syndrome |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000204 | Cleft upper lip | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000968 | Ectodermal dysplasia | Very frequent (99-80%) |
| HP:0001770 | Toe syndactyly | Very frequent (99-80%) |
| HP:0002744 | Bilateral cleft lip and palate | Very frequent (99-80%) |
| HP:0006101 | Finger syndactyly | Very frequent (99-80%) |
| HP:0000046 | Scrotal hypoplasia | Frequent (79-30%) |
| HP:0000135 | Hypogonadism | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000411 | Protruding ear | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000664 | Synophrys | Frequent (79-30%) |
| HP:0000670 | Carious teeth | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001596 | Alopecia | Frequent (79-30%) |
| HP:0001810 | Dystrophic toenail | Frequent (79-30%) |
| HP:0002167 | Neurological speech impairment | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002553 | Highly arched eyebrow | Frequent (79-30%) |
| HP:0003777 | Pili torti | Frequent (79-30%) |
| HP:0005338 | Sparse lateral eyebrow | Frequent (79-30%) |
| HP:0006482 | Abnormality of dental morphology | Frequent (79-30%) |
| HP:0006610 | Wide intermamillary distance | Frequent (79-30%) |
| HP:0007598 | Bilateral single transverse palmar creases | Frequent (79-30%) |
| HP:0008070 | Sparse hair | Frequent (79-30%) |
| HP:0008391 | Dystrophic fingernails | Frequent (79-30%) |
| HP:0008404 | Nail dystrophy | Frequent (79-30%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Frequent (79-30%) |
| HP:0011800 | Midface retrusion | Frequent (79-30%) |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | Frequent (79-30%) |
| HP:0000069 | Abnormality of the ureter | Occasional (29-5%) |
| HP:0000668 | Hypodontia | Occasional (29-5%) |
| HP:0000674 | Anodontia | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0000966 | Hypohidrosis | Occasional (29-5%) |
| HP:0000972 | Palmoplantar hyperkeratosis | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0002353 | EEG abnormality | Occasional (29-5%) |
| HP:0003307 | Hyperlordosis | Occasional (29-5%) |
| HP:0007477 | Abnormal dermatoglyphics | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001159 | Syndactyly | 1 |