| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
8897038 |
Fountain syndrome: further delineation of the clinical syndrome and follow-up data. Van Buggenhout GJ, Van Ravenswaaij-Arts CM, Renier WO, Van de Wiel MP, Trommelen JC, Pijkels E, Hamel BC, Fryns JP. Genet Couns. 1996;7(3):177-86. |
| Short stature | ||
| Adult Bone Diseases, Developmental Chromosome Aberrations Deafness Face Genes, Recessive Homo sapiens Intellectual Disability Male Middle Aged Syndrome | ||
| 1 (4.0%) |
3565469 |
Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome. Fryns JP, Dereymaeker A, Hoefnagels M, Van den Berghe H. Am J Med Genet. 1987;26(3):551-5. |
| Seizure | ||
| Adult Bone and Bones Chromosome Aberrations Deafness Face Homo sapiens Intellectual Disability Male Syndrome |
Total: 44
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000179 | Thick lower lip vermilion | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000282 | Facial edema | Very frequent (99-80%) |
| HP:0000311 | Round face | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0004493 | Craniofacial hyperostosis | Very frequent (99-80%) |
| HP:0000154 | Wide mouth | Frequent (79-30%) |
| HP:0000232 | Everted lower lip vermilion | Frequent (79-30%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000974 | Hyperextensible skin | Frequent (79-30%) |
| HP:0001482 | Subcutaneous nodule | Frequent (79-30%) |
| HP:0002353 | EEG abnormality | Frequent (79-30%) |
| HP:0011800 | Midface retrusion | Frequent (79-30%) |
| HP:0000174 | Abnormal palate morphology | Occasional (29-5%) |
| HP:0000212 | Gingival overgrowth | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000276 | Long face | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000574 | Thick eyebrow | Occasional (29-5%) |
| HP:0000664 | Synophrys | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0000965 | Cutis marmorata | Occasional (29-5%) |
| HP:0001163 | Abnormality of the metacarpal bones | Occasional (29-5%) |
| HP:0001176 | Large hands | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001760 | Abnormality of the foot | Occasional (29-5%) |
| HP:0002167 | Neurological speech impairment | Occasional (29-5%) |
| HP:0002414 | Spina bifida | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0003298 | Spina bifida occulta | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0009882 | Short distal phalanx of finger | Occasional (29-5%) |
| HP:0010783 | Erythema | Occasional (29-5%) |
| HP:0100255 | Metaphyseal dysplasia | Occasional (29-5%) |
| HP:0100670 | Rough bone trabeculation | Occasional (29-5%) |
| HP:0200034 | Papule | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|