Phenotype #0000243394
| Individual ID |
00324898 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 41+1w, weight 2980g (-1.7SD), length 49cm (-1.8SD), OFC 38cm (+1.6SD); weight 15.7kg (-0.9SD), length 98.5cm (-1.9SD), OFC 52cm (+0.5SD); intellectual disability; motor developmental delay; not walking; no speech; impaired receptive language; muscular hypotonia; no autistic features; agenesis of corpus callosum / absent septum pellucidum; not walking without support; no attention deficit hyperactivity disorder; febrile seizures; strabism; visual impairment; no agressive behaviour; central apnea in postnatal period; hyperopia; hearing impairment; epicanthic folds; thin upper lip; no dental anomalies; no frontal bossing; open mouth appearance; no deep set eyes; upslanting palpebral fissures; plagiocephaly; hypoplasia; no broad nasal bridge; neonatal feeding difficulties; mild lumbal scoliosis; no gastroesophageal reflux; patent ductus arteriosus, patent formane ovale; cryptorchidism |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y4m (4 years, 4 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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