Phenotype #0000161978

Individual ID 00213519
Associated disease ?
Diagnosis/Initial Escobar syndrome (EVMPS)
Diagnosis/Definite -
Phenotype details major hypotonia, distal amyotrophy, delayed motor milestones, scoliosis, pes varus, contractures proximal/distal joint, no head/sitting control, multiple pterygia affecting neck, axilla and antecubital/popliteal area; convergent squint, ptosis and cryptorchidism
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset hypotonia, arthrogryposis
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2012-03-30 17:35:31 +02:00 (CEST)
Date last edited 2012-03-30 17:36:23 +02:00 (CEST)

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