Phenotype #0000143714

Individual ID 00181525
Associated disease DD
Phenotype details normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; focal seizures; EEG-generalized and multifocal abnormalities; autism spectrum disorder; RTT-like features stereotyped hand movements (wringing), absent purposeful hand movements; no movement disorder; no central visual defects; speech only 5–10 spoken words; MRI brain unremarkable; clumsiness, abnormal behavior
Diagnosis/Initial NEDHAHM
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Stephanie Efthymiou
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stephanie Efthymiou
Date created 2018-10-10 15:37:11 +02:00 (CEST)
Date last edited 2020-06-17 10:04:14 +02:00 (CEST)

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