Phenotype #0000223727
| Individual ID |
00296260 |
| Associated disease |
? |
| Diagnosis/Initial |
microcephaly, intellectual disability, epilepsy |
| Diagnosis/Definite |
- |
| Phenotype details |
prenatal elevated nuchal translucency (3.8 mm) microcephaly and polyhydramnios (AFI-27 CM); during pregnancy elevated Nuchal translucency (3.8 mm) microcephaly and polyhydramnios (AFI-27 CM); birth 40w gestation, length unknown, weight 3500 g, head circumference 36.5 cm (+0.38 SD); length 76 cm (−3.6 SD), weight unknown, head circumference 43 cm (−4.4 SD); motor delay; nonverbal; severe intellectual disability; epilepsy, global developmental delay, hypertonia with significant spasticity; MRI 23m-thin corpus callosum; EEG focal epileptiform discharges in the left temporal and occipital regions; intractable generalized seizures; no behavioral problems; no sleep disturbance; oval face with plagiocephaly and high arched palate; normal hearing; cortical blindness; no abnormality heart; no abnormality respiratory system; feeding difficulties; left cryptorchidism; single café au lait spot on back; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
2y (2 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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