| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
11515730 |
Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. Milenkovic T, Zdravkovic D, Gardner RJ, Ignjatovic M, Jankovic B. J Pediatr Endocrinol Metab. 2001;14(7):893-5. |
| Hypertelorism Umbilical hernia | ||
| Blood Glucose Chromosome Aberrations Chromosomes, Human, Pair 6 Diabetes Mellitus Homo sapiens Hypoglycemic Agents Infant, Newborn Insulin Male | ||
| 2 (4.0%) |
27909691 (5112232) |
6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results. Fudvoye J, Farhat K, De Halleux V, Nicolescu CR. Front Pediatr. 2016;4:124. |
| Hyperglycemia | ||
| INS | ||
| 2 (4.0%) |
20412110 |
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. Suzuki S, Fujisawa D, Hashimoto K, Asano T, Maimaiti M, Matsuo K, Tanahashi Y, Mukai T, Fujieda K. Clin Genet. 2010;78(6):580-4. |
| Intrauterine growth retardation | ||
| PLAGL1 | ||
| Chromosomes, Human, Pair 6 Diabetes Mellitus Diseases in Twins Females Homo sapiens Infant, Newborn Macroglossia Uniparental Disomy | ||
| 2 (4.0%) |
9880447 |
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. Christian SL, Rich BH, Loebl C, Israel J, Vasa R, Kittikamron K, Spiro R, Rosenfield R, Ledbetter DH. J Pediatr. 1999;134(1):42-6. |
| Hypertelorism | ||
| Aneuploidy Chromosomes, Human, Pair 6 Diabetes Mellitus Females Genetic Polymorphism Homo sapiens Infant, Newborn Insulin Male Short Tandem Repeat |
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000065 | Labial hypertrophy | Very frequent (99-80%) |
| HP:0000158 | Macroglossia | Very frequent (99-80%) |
| HP:0000212 | Gingival overgrowth | Very frequent (99-80%) |
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000237 | Small anterior fontanelle | Very frequent (99-80%) |
| HP:0000269 | Prominent occiput | Very frequent (99-80%) |
| HP:0000271 | Abnormality of the face | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000363 | Abnormality of earlobe | Very frequent (99-80%) |
| HP:0000448 | Prominent nose | Very frequent (99-80%) |
| HP:0000586 | Shallow orbits | Very frequent (99-80%) |
| HP:0000826 | Precocious puberty | Very frequent (99-80%) |
| HP:0000857 | Neonatal insulin-dependent diabetes mellitus | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001537 | Umbilical hernia | Very frequent (99-80%) |
| HP:0001562 | Oligohydramnios | Very frequent (99-80%) |
| HP:0001629 | Ventricular septal defect | Very frequent (99-80%) |
| HP:0001640 | Cardiomegaly | Very frequent (99-80%) |
| HP:0001804 | Hypoplastic fingernail | Very frequent (99-80%) |
| HP:0001944 | Dehydration | Very frequent (99-80%) |
| HP:0002123 | Generalized myoclonic seizures | Very frequent (99-80%) |
| HP:0002240 | Hepatomegaly | Very frequent (99-80%) |
| HP:0002643 | Neonatal respiratory distress | Very frequent (99-80%) |
| HP:0008897 | Postnatal growth retardation | Very frequent (99-80%) |
| HP:0001380 | obsolete Ligamentous laxity | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0010866 | Abdominal wall defect | Occasional (29-5%) |
| HP:0100767 | Abnormality of the placenta | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|