Phenotype #0000230657

Individual ID 00303594
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite IDDSADF
Phenotype details birth 40w, weight 2400 g; brachycephaly, floppy, readmitted day 10 with seizures; height 0.4-2 centile, weight 2-9 centile, OFC 75-91 centile; walk-22m; early hypotonia; speech no words; profound learning difficulties; normal hearing, normal vision; Prominent forehead, deep set eyes, small hands and feet; MRI brain 18y-global cerebral and cerebellar atrophy, with mega cisterna magna and thickened corpus callosum; seizures started 10 weeks of age, 3y-frontal lobe epilepsy, stable thoracolumbar scoliosis
Inheritance Isolated (sporadic)
Age/Examination 21y (21 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2020-06-16 23:30:21 +02:00 (CEST)
Date last edited N/A

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