Phenotype #0000296518
| Individual ID |
00403838 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
abnormal pregnancy early gestosis, low birth labor activity, birth 40w, length 56cm, weight 4000g; weight 14 kg (3rd percentile), height 110 cm (50th percentile), OFC 49 cm (3rd percentile), brachicephaly; from birth delayed motor development; 1m-head control; not sitting; 2y2m-walk; no speech; regression; moderate-severe developmental delay; IQ43 (WISC); no autism; attention disorder; hypertonia of upper limbs S>D; ataxia; increased reflexes, asymmetry, Babinsky syndrome on both sides; dystonia of leg muscles last year; 22m-epilepsy, myoclonic seizures, seizure free since 1.5m, trigger fever; EEG normal; normal sleep; MRI brain hypoplasia corpus callosum, moderate to severe periventricular leukomalaci as a consequence of hypoxic ischemic brain injury; normal routine blood tests; normal vision; no hearing loss; normal skin; mild dysmorphism; eastern strabismus; normal nose; normal philtrum; normal mouth; normal lips; normal jaw; gotic palate; normal chin; dysmorphic ears; hypermobility joints; flat-footed; Ultrasound of internal organs normal; metabolites blood was not detected, disease slowly worsened until 14y, after which it stabilized without any syndromic disorder |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
5y (5 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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