Phenotype #0000304347

Individual ID 00412342
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details last assessment early childhood; height -0.1 SD, OFC -0.7 SD; no microcephaly; no short stature; delayed walking (>18m, toddler); intellectual disability; developmental delay; speech not yet achieved, no words, only babbling; intractable atonic and tonic seizures; hypotonia; normal joints; normal movement; strabismus; normal hearing; no dysmorphism; no GI dysmotility/feeding problems; no autism spectrum disorder, hyperactive, autistic features (no formal diagnosis); no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain cortical dysplasia of left temporal lobe; Generalized epileptiform discharges in ictal and inter ictal EEG;
Inheritance Isolated (sporadic)
Age/Examination -
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 2022-06-27 19:18:04 +02:00 (CEST)
Date last edited N/A

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