Phenotype #0000231760

Individual ID 00305913
Associated disease NDD
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details kyphoscoliosis with gibbus, ogival palate; 5-10y-onset motor regressio, 15y-severe motor problems; 11m-first words, 5y-speech skills at level of 2.5y, expressive language problems, dysarthria; 28y-wheelchair-bound; 35y-dysphagia with aspiration and esophageal reflux; completely dependent, wheelchair bound; ataxia, choreoathetosis, generalized dystonia; divergent strabismus, mild proptosis; hyperreflexia; axial hypotonia; intellectual disability (first years); 13.5m-febrile seizures, photosensitive epilepsy, myoclonic epilepsy; EEG 10y-abnormal, 13y-diffuse slowing, bilateral generalized bursts of spikes and waves and polyspikes; MRI brain 34y-atrophy (cerebral, cerebellar, brainstem, corpus callosum); muscle biopsy normal
Inheritance Isolated (sporadic)
Age/Examination 43y (43 years)
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 2020-07-05 16:07:27 +02:00 (CEST)
Date last edited 2020-07-06 09:38:36 +02:00 (CEST)

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