Phenotype #0000125553

Individual ID 00152624
Associated disease WWS
Phenotype details contractures, retinal detachmenty, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, lissencephaly, feeding difficulties, RIP 8w; ?microcephaly; CPK 5700; intellectual disability; no motor milestones
Diagnosis/Initial Walker-Warburg syndrome (WWS)
Inheritance Unknown
Diagnosis/Definite MDDGA-6
Age/Examination -
Age/Diagnosis -
Age/Onset <0d
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 2008-01-29 17:24:44 +01:00 (CET)
Date last edited 2012-03-04 15:57:43 +01:00 (CET)

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