Phenotype #0000317881

Individual ID 00426727
Associated disease -
Phenotype details microcephaly, exophthalmos, nevus flammeus of the glabella, expressionless face, anteverted nares, hypertelorism, micrognathia and low-set ears; limb contractures, persistent flexion of the elbows, axial hypotonia and segmental hypertonia; non-specific seizures and had profound global developmental delay
Diagnosis/Initial Bohring-Opitz syndrome (BOS)
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-12-02 14:17:29 +01:00 (CET)
Date last edited N/A

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