Phenotype #0000143711

Individual ID 00181522
Associated disease DD
Phenotype details normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; no epileptic seizures; EEG-high-voltage delta activity, sharp wave-slow wave complexes; autism spectrum disorder; RTT-like features stereotyped hand movements, absent purposeful hand movements; choreic movement, flapping, dystonic postures; central visual defects; no speech; MRI brain thin corpus callosum, delayed myelination; inability to walk
Diagnosis/Initial developmental delay
Inheritance Isolated (sporadic)
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 15:21:47 +02:00 (CEST)
Date last edited 2020-06-17 10:15:45 +02:00 (CEST)

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