Phenotype #0000036699

Individual ID 00050081
Associated disease ACCPN
Phenotype details see paper; Andermann syndrome; hypotonia, areflexia upper/lower extremities, delayed motor milestones mental retardation, afebrile seizures, dysmorphic features; MRI complete agenesis corpus callosum, batwing appearance frontal horns, enlargement cisterna magna
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 05y (5 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2012-11-07 12:34:19 +01:00 (CET)
Date last edited 2015-09-19 21:38:41 +02:00 (CEST)

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