Phenotype #0000124657

Individual ID 00152314
Associated disease WWS
Phenotype details contractures, hypertrophy, scoliosis, rigid spine, weakness lower limbs > upper limbs, poor visual attention, microcepahly, MRI hydrocephalus, cerebellar hypoplasia, white matter abnormality, lissencephaly, gastrostomy; CPK 4000; intellectual disability (HP:0001249); not able to sit
Diagnosis/Initial Walker-Warburg syndrome
Inheritance Unknown
Diagnosis/Definite MDDGA-1
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 2008-01-27 21:47:05 +01:00 (CET)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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