Phenotype #0000243396
| Individual ID |
00324900 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 39w, weight 1885g (-3.5SD), OFC 32.8cm (-2.0SD); weight 9.91kg (-1.8SD), length 83cm (-2.5SD), 1y-OFC 44.6 cm (-1.3 SD); intellectual disability; motor developmental delay; 24m-walk; impaired speech development; muscular hypotonia; white matter abnormalities; no strabism; visual impairment; no abnormal respirations; no myopia/hyperopia; no hearing impairment; epicanthic folds; thin upper lip; no dental anomalies; frontal bossing; no open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; broad nasal bridge; neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; pulmonary valve stenosis |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
2y6m (2 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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