Phenotype #0000228796
| Individual ID |
00301698 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
born at term via spontaneous vaginal delivery without postnatal complications with birth weight of 3.5 Kg. His first seizure started at age 5 months as left-sided focal seizure (mainly upper limb) with left eye blinking, and facial twitching, that recurred 2-3times/day lasting for 1-2 minutes, later generalized tonic clonic seizures were noted during his first two years of life. He was admitted twice to ICU with status epilepticus. His seizures were medically intractable to multiple antiepileptic drugs (Phenobarbitone, Carbamezapine, Topiramate, and Levetiracetam). His development was normal until 5 months of age, then he had a slower gain of milestones, walked at 24 months, climbed upstairs alone at 30 months. He has intellectual disability with severely delayed speech and social milestones, and with no sphincter control. He had normal vision and hearing. He has sleep disturbance, ADHD, and some autistic-like features. Self-mutilation, gratification phenomena, and hyperphagia were other behavioral disorders noted. Melatonin, and Risperidone partially improved his symptoms. Family history revealed intellectual disability and epilepsy in his older brother as well as intellectual disability in three sons of two paternal uncles. Also, there was positive history of congenital heart disease in the family. He has mild dysmorphic features with light hair color, no neurocutaneous stigmata, but with a normal head circumference (52cm at 12 years of age). Cranial nerves were intact with normal tone, power, reflexes, and gait. He had persistent abdominal distension with no organomegaly. |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
18y (18 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-05-22 17:20:34 +02:00 (CEST) |
| Date last edited |
N/A |
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