Phenotype #0000223725
| Individual ID |
00296258 |
| Associated disease |
? |
| Diagnosis/Initial |
microcephaly, intellectual disability, epilepsy |
| Diagnosis/Definite |
- |
| Phenotype details |
no prenatal structural anomalies; concern about CMV infection in first trimester, no CMV detected by PCR of amniotic fluid, neonatal blood and urine, neonatal jaundice treated with 3 days of phototherapy; birth 40w gestation, length 51 cm (+0.5 SD), weight 3430 g (+0.17 SD), head circumference 30.5 cm (−2.2 SD); length 100 cm (−1.3 SD), weight 15.5 kg (−0.8 SD), head circumference 46 cm (−3.6 SD); motor delay; stand with assistance; first words-12m, 2 words; severe intellectual disability; epilepsy, global developmental delay, intermittent tremor in leg; MRI 6m-thin corpus callosum, incomplete myelination; CT 16m-no calcification, no sutural synostosis; EEG slow and less well-modulated background for age, no epileptiform activity; two generalized tonic-clonic seizures; no behavioral problems; frequent waking during night, early morning waking; round face with metopic ridging, brachycephaly, upslanting palpebral fissures, normal corneal reflexes, thin upper lip; normal hearing; exotropia, normal vision; no abnormality heart; laryngomalacia; PEG feeds; no abnormality urogenital system; high anterior hairline, sparse scalp hair; no chillblains; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
5y9m (5 years, 9 months) |
| 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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