Global Variome shared LOVD

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Phenotype #0000231957 Individual ID 00306116 Associated disease COFS Diagnosis/Initial severe cerebro-oculo-facial-skeletal syndrome Diagnosis/Definite COFS4 Phenotype details pregnancy intrauterine growth retardation; birth 37w, weight, length, and OFC <3rd percentile; microcephaly, premature closure of fontanels, bilateral microphthalmia, blepharophimosis, high nasal bridge, short filtrum, micrognathia, low-set ears, posterior-rotated ears, arthrogryposis with rocker-bottom feet , flexion contractures hands, bilateral congenital hip dislocation; X-rays no spine abnormalities; NMR simplified gyral pattern, cerebellar hypoplasia; mild hypoplasia kidneys with normal structure and function; echography no congenital heart defects; no genital abnormalities, no retinopathy; failure to thrive, tube feeding, did not pass any developmental milestone; 14m-deceased of respiratory failure due to bilateral pneumonia, weight 4.5 kg, height 56 cm, OFC 38 cm Inheritance Familial, autosomal recessive Age/Examination 00y14m (14 months) Age/Diagnosis 00y00m01d Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-08 13:50:54 +02:00 (CEST) Date last edited N/A

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