Phenotype #0000143712

Individual ID 00181523
Associated disease DD
Phenotype details normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; focal seizures, generalized tonic-clonic seizures; EEG-fast rhythmic activity, sharp wave-slow wave complexes; autism spectrum disorder; RTT-like features body rocking, head banging, screaming, absent purposeful hand movements; generalized chorea; central visual defects; no speech; MRI brain unremarkable; abnormal behavior, self-injury, inability to walk
Diagnosis/Initial developmental delay
Inheritance Familial, autosomal dominant
Diagnosis/Definite NEDHAHM
Age/Examination 10y (10 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 15:30:58 +02:00 (CEST)
Date last edited 2020-06-17 10:12:26 +02:00 (CEST)

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