Phenotype #0000319014

Individual ID 00428068
Associated disease NDD
Diagnosis/Initial neurodevelopmental dealy
Diagnosis/Definite -
Phenotype details brith 41w4/7, weight 2.97 kg (-0.59 SD); absent speech; delayed gross motor development; severe global developmental delay; starting at 3 months of age; epileptic spasms, tonic seizures with clonic component; no autism; hypotonia; MRI brain short corpus callosum with disproportionately small splenium; no behavior abnormalities; no failure to thrive; feeding problems, G-tube, gastroesophageal reflux; no dysmotility; no hypoventilation; cortical blindness; no hearing impairment; no dysmorphic features; no congenital anomalies; poor sleep-required melatonin and phenergen as well as trial of Chloral hydrate
Inheritance Isolated (sporadic)
Age/Examination 2y10m (2 years, 10 months)
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 2022-12-21 10:47:09 +01:00 (CET)
Date last edited N/A

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