Phenotype #0000357292
| Individual ID |
00472482 |
| Associated disease |
NDD |
| Diagnosis/Initial |
congenital lactic acidosis |
| Diagnosis/Definite |
CHOCNS |
| Phenotype details |
see paper; ..., prenatal dilated cerebral ventricles, dilated renal pelvices; neonatal magnesium toxicity; normal growth; developmental delay; no intellectual disability; autism; aggressive; 9m-sit; 19m-walk; 12m-speech, full sentences; hypotonia; seizures, partial complex; MRI brain thinning corpus callosum, supratentorial white matter volume loss, communicating hydrocephalus with prominent disproportionate dilation of the lateral and third ventricles with moderate prominence cerebral sulci; no visual anomalies; constipation; micropenis, cryptorchidism, chordee; no cardiovascular anomalies; bilateral high frequency sensorineural hearing loss; left parietal cephalohematoma; macrocephalic, plagiocephaly, broad forehead, mild prognathism, hooded lids, downslanting palpebral fissures, downslanting eyebrows, sparse right lateral eyebrow, slightly low columella, narrow and smooth philtrum, thin upper vermillion Extremities: tapered thumbs and fingers, short nail beds |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
8y4m (8 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 |
2026-02-18 11:04:57 +01:00 (CET) |
| Date last edited |
N/A |
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