Phenotype #0000236422

Individual ID 00311167
Associated disease ?
Diagnosis/Initial microcephaly
Diagnosis/Definite -
Phenotype details see paper; ..., birth length 48.9 cm, weight 2890 g, OFC 29 cm; length 81 cm (-2.6 SD), OFC 36.1 cm (-12 SD); fullness glabellar region, bitemporal narrowing, prominent eyes and eyelashes, upslanting palpebral fissures; significant developmental delay; MRI brain simplified gyral pattern, dysgenesis of corpus callosum; seizures (controlled); suspected cortical visual impairment; no skeletal abnormalities; feeding difficulties, G-tube; recurrent pneumonia
Inheritance Isolated (sporadic)
Age/Examination 2y8m (2 years, 8 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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-09-20 10:10:24 +02:00 (CEST)
Date last edited N/A

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