Phenotype #0000243395
| Individual ID |
00324899 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 42w, weight 3685g (+0.1SD), length 52.07cm (-0.2SD),, OFC 37.5cm (+1.6SD); weight 48.9kg (-1.4SD), length 152.4cm (-2.4SD), 13y-OFC 56cm (+1.5 SD); intellectual disability; motor developmental delay; not walking; no speech; impaired receptive language; muscular hypotonia; mildly prominent ventricles, mildly dysplastic corpus callosum; not walking without support; no attention deficit hyperactivity disorder; seizures, Lennox-Gastaut syndrome; no strabism; visual impairment; agressive behaviour; central apnea in postnatal period; no myopia/hyperopia; no hearing impairment; no epicanthic folds; thin upper lip; no dental anomalies; frontal bossing; open mouth appearance; deep set eyes; upslanting palpebral fissures; plagiocephaly; hypoplasia; no broad nasal bridge; neonatal feeding difficulties; hip dysplasia; gastroesophageal reflux; short QT interval |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
17y6m (17 years, 6 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 |
2020-12-24 16:46:49 +01:00 (CET) |
| Date last edited |
N/A |
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