Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (26.3%) |
21094705 |
Crane-Heise syndrome: two further case reports. Petit F, Devisme L, Toutain A, Houfflin-Debarge V, Dieux-Coeslier A, Manouvrier-Hanu S, Andrieux J, Holder-Espinasse M. Eur J Med Genet. 2011;54(2):169-72. |
Hypertelorism Anteverted nares | ||
Congenital Abnormality Craniofacial Abnormalities Females Gestational Age Homo sapiens Infant, Newborn Pregnancy Pregnancy Trimester, Second Ultrasonography |
Total: 20
HPO ID | Term | Frequency |
---|---|---|
HP:0000175 | Cleft palate | Very frequent (99-80%) |
HP:0000316 | Hypertelorism | Very frequent (99-80%) |
HP:0000347 | Micrognathia | Very frequent (99-80%) |
HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
HP:0000463 | Anteverted nares | Very frequent (99-80%) |
HP:0000882 | Hypoplastic scapulae | Very frequent (99-80%) |
HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
HP:0001762 | Talipes equinovarus | Very frequent (99-80%) |
HP:0004331 | Decreased skull ossification | Very frequent (99-80%) |
HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
HP:0006660 | Aplastic clavicle | Very frequent (99-80%) |
HP:0000028 | Cryptorchidism | Frequent (79-30%) |
HP:0001387 | Joint stiffness | Frequent (79-30%) |
HP:0001770 | Toe syndactyly | Frequent (79-30%) |
HP:0006101 | Finger syndactyly | Frequent (79-30%) |
HP:0009882 | Short distal phalanx of finger | Frequent (79-30%) |
HP:0100569 | Abnormally ossified vertebrae | Frequent (79-30%) |
HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
Total: 4
HPO ID | Term | # of case reports |
---|---|---|
HP:0000316 | Hypertelorism | 1 |
HP:0000358 | Posteriorly rotated ears | 1 |
HP:0000463 | Anteverted nares | 1 |
HP:0001511 | Intrauterine growth retardation | 1 |
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
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