Phenotype #0000053524
| Individual ID |
00016940 |
| Associated disease |
EECB |
| Phenotype details |
6m-absence of ocular reaction to visual threat, normal pupillary reflex, and normal aspect of the fundus.; first seizures noticed, characterized by eye revulsion and rhythmic arm and body movements.; 7,5m: left occipital epileptic, short absences with immobility, moderate body sagging, and unreactiveness to external stimuli; 1y10m: started to walk, no new skills acquired; Currently: wandering eye movements and a complete absence of reaction to visual threat and light stimulation. despite administration antiepileptic drugs experiences repeated tonic-clonic seizures, walk without help in known environments, limited speech skills to repeating the last three words of sentences, understands simple commands, can smile, but not in a social context. Uses hands to grasp objects, but not to point or communicate. Can bring a spoon to the mouth, but is unable to eat by herself. Manifests hand, trunk, and head (screwing and unscrewing movements) stereotypies. Since neonatal: Weight and size 2–3 SDs, OFC 1 SD; dysmorphic facial features, bitemporal narrowness, a low anterior hairline, thick and duplicated eyebrows, synophrisis, long eyelashes, enophthalmia, large prominent nasal root, bulbous nasal tip, thick, hammered helix, thick earlobes, short philtrum, full lips, everted lower lip, spaced incisors |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
10y (10 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Marianne Vos (LOVD-team) |
| Database submission license |
No license selected |
| Created by |
Johan den Dunnen |
| Date created |
2016-06-19 12:02:22 +02:00 (CEST) |
| Date last edited |
N/A |
|
