Phenotype #0000223726
| Individual ID |
00296259 |
| Associated disease |
? |
| Diagnosis/Initial |
microcephaly, intellectual disability, epilepsy |
| Diagnosis/Definite |
- |
| Phenotype details |
deceased; no prenatal structural anomalies; c-section due to pre-eclampsia, no other complications with pregnancy or delivery, 7w in NICU, not intubated, had anemia requiring blood transfusion and had apnea requiring caffeine; birth 31w gestation, length unknown, weight 1701 g; length 81 cm (−2 SD), weight 10.95 kg (−0.9 SD), head circumference 43.5 cm (−4.0 SD); motor delay; unable to roll over or support head; nonverbal; profound intellectual disability; epilepsy, global developmental delay, diffuse hypotonia, symmetric antigravity movements of limbs; MRI 22m-microcephaly, diffuse supratentorial volume loss, white matter gliosis, delayed myelination; EEG multifocal epileptiform discharges; migrating focal seizures; no behavioral problems; no sleep disturbance; non-dysmorphic with plagiocephaly; normal hearing; cortical blindness; no abnormality heart; grade 1 subglottic stenosis; PEG feeds; 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 |
24m |
| 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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