Phenotype #0000319133

Individual ID 00428221
Associated disease ?
Diagnosis/Initial fetal akinesia
Diagnosis/Definite CMS6
Phenotype details termination pregnancy 23w; reduced fetal movements, velamentous insertion, lymphoedema of the feet, scalp oedema; contractures wrists, rocker-bottom feet; micrognathia, retrognathia, long philtrum; pulmonary hypoplasia, flexion anomaly of both hands
Inheritance Familial, autosomal recessive
Age/Examination <0d
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2022-12-24 16:09:43 +01:00 (CET)
Date last edited N/A

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