Phenotype #0000352525

Individual ID 00467318
Associated disease arthrogryposis
Inheritance Familial, autosomal dominant
Diagnosis/Initial lethal arthrogryposis
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details see paper; ..., deceased-27wg; severe micrognathia, short palpebral fissures, hypertelorism, short neck, large neck, bilateral club foot, flexion elbows/knees, camptodactyly, lethal arthrogryposis multiplex congenita
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 2025-10-10 17:20:40 +02:00 (CEST)
Date last edited N/A

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