Phenotype #0000143715

Individual ID 00181526
Associated disease DD
Phenotype details normal growth, normal OFC; hypotonia, developmental delay; moderate intellectual disability; no epileptic seizures; EEG-disorganized paroxysms; autism spectrum disorder; RTT-like features stereotyped hand movements (washing); no movement disorder; no central visual defects; speech only 5 words; MRI brain unremarkable; abnormal behavior
Diagnosis/Initial developmental delay
Inheritance Familial, autosomal dominant
Diagnosis/Definite NEDHAHM
Age/Examination 03y (3 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 15:39:21 +02:00 (CEST)
Date last edited 2020-06-17 10:21:50 +02:00 (CEST)

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