Phenotype #0000000730
| Individual ID |
00001548 |
| Associated disease |
CSS |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
CSS |
| Phenotype details |
brith 38w, weight SD 0, OFC 36 cm; glabellar hemangioma in neonatal period,- 2 angiomatous tumors (0.5cm) on the bottom, spontaneous regression,- Bilateral cryptorchidism,- grimacing cry during the first months, persistent fetal pads; MRI-brain Mega magna cisterna; myopia -2D (HP:0000545); no seizures (-HP:0001250); severe speech delay (HP:0000750); mild-moderate intellectual disability; poor sociability, short attention span (HP:0000736); no anteverted nares (-HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); no delayed bone age (-HP:0003799); cone shaped epiphyses (HP:0010579), hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545); convergent strabismus (HP:0020054) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
04y08m (4 years, 8 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Gijs Santen |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Ivo F.A.C. Fokkema |
| Date created |
2013-06-28 17:52:20 +02:00 (CEST) |
| Date last edited |
2020-07-26 12:38:06 +02:00 (CEST) |
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