Phenotype #0000307187
| Individual ID |
00415393 |
| Associated disease |
NDD |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
39w-, length 48cm (-1.7), weight 2390g (-2.53), OFC 32cm (-2.54); small for gestational age (approx. 3rd percentile), increase nucal translucency, neonatal hyperbilirubinemia (phototherapy), failure to thrive neonatal period; height 75.7cm (-4.13), weight 8.84Kg (-3.05), OFC 46.5cm (-2.71), BMI 15.4 (-0.42); delayed bone age (20m at 2y2m); 16m-walk; not toilet trained; dependent for all cares; 24m-first words, speaks 5-6 words; attends playgroup; no autistic features; happy, social; no sleep disturbances; no seizures; no hypotonia; frequent airway infections; mild peripheral stenosis of the left pulmonary artery; tendency to constipation; left renal agenesis, right kidney normal in shape and function; no endocrinological abnormalities; increased plasma methylmalonic acid (up to >9x upper limit); no immunological abnormalities; no skeletal/limb abnormalities; broad and prominent forehead, a bulbous tip of the nose, retrognathia, low set posteriorly rotated ears |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
2y2m (2 years, 2 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-08-13 16:30:49 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
