Phenotype #0000223728
| Individual ID |
00296261 |
| Associated disease |
? |
| Diagnosis/Initial |
microcephaly, intellectual disability, epilepsy |
| Diagnosis/Definite |
- |
| Phenotype details |
no prenatal structural anomalies; no complications during pregnancy or delivery; birth 38w gestation, length 50 cm (−4.3 SD), weight 3600 g (+0.51 SD), head circumference in normal range; length 114 cm (−4.3 SD), weight 20 kg (−4.1 SD), head circumference 49 cm (−3.3 SD); motor delay; nonverbal; profound intellectual disability; epilepsy, global developmental delay, axial hypotonia with appendicular hypertonia and distal contractures, muscle atrophy, repetitive movements of right hand and neck; MRI 3y-brain atrophy in temporal lobes; EEG focal and generalized epileptiform discharges; 7y-intractable generalized seizures with increased frequency from once a month to once every 15d; no behavioral problems; no sleep disturbance; non-dysmorphic face; normal hearing; cortical blindness; no abnormality heart; no abnormality respiratory system; feeding difficulties; no abnormality urogenital system; no abnormality skin/hair/nails; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
11y (11 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 |
2020-04-04 10:15:38 +02:00 (CEST) |
| Date last edited |
N/A |
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