Global Variome shared LOVD

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Phenotype #0000317892 Individual ID 00426738 Associated disease - Phenotype details peripheral retinal and optic disc atrophy; seizures in infancy controlled by Phenobarbital; severe psychomotor delay and growth retardation, never developed head control, sitting, standing or walking, no speech at all, and had a history of hospitalization for respiratory distress, chronic diarrhea, urinary infection and an operation for patent ductus arteriosus (PDA); severe growth retardation, short stature and severe secondary microcephaly; facial dysmorphism including prominent eyes, broad nasal bridge, large ears, micrognathia, hypertelorism, low frontal hairline and low set ears; upper and lower extremity contractures, clasped hands, foot deformity and overriding toes; 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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