Phenotype #0000296519
| Individual ID |
00403839 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
18w-19w threat of termination pregnancy, polyhydramnios, immune conflict for AB0, low birth labor activity, meconium, birth 40w, length 58cm, weight 3700g; weight 34.5 kg (10th percentile), height 144.5 cm (10th percentile), OFC 54 cm (25-50th percentile), dolicocephaly; delayed motor development; 4m-head control; 1y2m-sit; 2y2m-walk; 9y-lost babling and few words; regression; moderate developmental delay; IQ50 (WISC-IV); no autism; screaming 1-2 words without any connection, attention disorder; no hypotonia; no ataxia; normal reflexes; epilepsy; EEG normal; normal sleep; MRI brain changes white matter of the frontal and parietal lobes mostly of dysmyelogenous nature; ultrasonic cardiography showed patent foramen ovale; normal blood and urin tests; normal vision; no hearing loss; normal skin; mild dysmorphism; antimongoloid, hypertelorism; high nose spine; normal philtrum; normal mouth; narrow lips; prognathism; gotic palate; normal chin; dysmorphic ears; hypermobility joints; 13y-severe thoracolumbar scoliosis; separated middle and index finger; The content of metabolites in the blood was not detected; Acetonemic syndrome, The disease slowly worsened until 14y, after which it stabilized without any syndromic disorder |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
13y (13 years) |
| 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 |
2022-02-24 15:46:26 +01:00 (CET) |
| Date last edited |
N/A |
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