| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (37.8%) |
21995818 (4131925) |
New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies. Basel-Vanagaite L, Sprecher E, Gat A, Merlob P, Albin-Kaplanski A, Konen O, Solomon BD, Muenke M, Grzeschik KH, Sirota L. Pediatr Dermatol. 2012;29(1):89-95. |
| Camptodactyly Pyriform aperture stenosis | ||
| CDON SHH SIX3 TGIF1 ZIC2 | ||
| Biopsy Facies Females Homo sapiens Infant Intellectual Disability Phenotype Skin Skin Abnormalities Syndrome | ||
| 2 (4.0%) |
21262397 |
Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type". Wouters L, Rodriguez Rodriguez CM, Dapena EP, Poorten VV, Devriendt K, Van Esch H. Eur J Med Genet. 2011;54(3):236-40. |
| Intellectual disability | ||
| rs864309718 rs864309719 | ||
| Child, Preschool Cleft Palate Differential Diagnosis Facies Females Growth Disorders Homo sapiens Infant Intellectual Disability Male Skin Abnormalities Syndrome |
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000969 | Edema | Very frequent (99-80%) |
| HP:0001072 | Thickened skin | Very frequent (99-80%) |
| HP:0007522 | Increased number of skin folds | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0007400 | Irregular hyperpigmentation | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000045 | Abnormality of the scrotum | Occasional (29-5%) |
| HP:0000046 | Scrotal hypoplasia | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000271 | Abnormality of the face | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Occasional (29-5%) |
| HP:0000482 | Microcornea | Occasional (29-5%) |
| HP:0000488 | Retinopathy | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001635 | Congestive heart failure | Occasional (29-5%) |
| HP:0002230 | Generalized hirsutism | Occasional (29-5%) |
| HP:0003011 | Abnormality of the musculature | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0006768 | Localized neuroblastoma | Occasional (29-5%) |
| HP:0008572 | External ear malformation | Occasional (29-5%) |
| HP:0100559 | Lower limb asymmetry | Occasional (29-5%) |
| HP:0100560 | Upper limb asymmetry | Occasional (29-5%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0025011 | Pyriform aperture stenosis | 1 |
| HP:0025356 | Psychomotor retardation | 1 |