Global Variome shared LOVD

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Phenotype #0000317887 Individual ID 00426733 Associated disease - Phenotype details cold induced sweating; global developmental delay, facial dysmorphism, spasticity and failure to thrive; triangular face, sparse, hypopigmented hair, prominent forehead, facial nevus simplex (flammeus) on the forehead, hirsutism, arched eyebrows, dysplastic ears, downturned corners of mouth, gum hypertrophy, narrow palate. Spasticity, contractures at elbow, camptodactyly and absent deep tendon reflexes; retinal pigmentary abnormalities and mottling 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 International Created by Julia Lopez Date created 2022-12-02 14:17:29 +01:00 (CET) Date last edited N/A

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