Phenotype #0000043161

Individual ID 00056473
Associated disease MEB
Phenotype details MEB;WWS; prenatal oligohydramnios; severe intellectual delay; sensorineural hearing loss; ataxia; retinal dysfunction (on electroretinogram); no cardiorespiratory findings; brain MRI pontine and cerebellar hypoplasia; CPK 2,974 max U/l; max motor ability w(support)3y
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset increased tone; microcephaly; cleft palate; feeding difficulties
Protein -
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 2013-07-23 22:58:32 +02:00 (CEST)
Date last edited N/A

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