Phenotype #0000279219
| Individual ID |
00385423 |
| Associated disease |
NS |
| Phenotype details |
height 144 cm (SD-4.35), weight 56 kg (SD-1.29), OFC 56 cm (SD-1.00); developmental delay; mild intellectual disability; language delay; learning disorder; hypotonia; no congenital heart defect; hypertrophic cardiomyopathy; pectus excavatum; no hyperlaxity; bitemporal narrowing; no hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; downward slanted palpebral fissures, prominent nasolabial folds, long philtrum; no café-au-lait spots; no freckling; no cryptorchidism; no lymphatic involvement; no bleeding/easy bruising; no hematological abnormalities; tiny hemangiomas |
| Diagnosis/Initial |
Noonan syndrome-like |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
NS14 |
| Age/Examination |
39y (39 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-10-11 08:59:10 +02:00 (CEST) |
| Date last edited |
2024-01-25 09:34:08 +01:00 (CET) |
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