Global Variome shared LOVD

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Phenotype #0000279240 Individual ID 00385445 Associated disease MKS Diagnosis/Initial Meckel-Gruber syndrome Diagnosis/Definite MKS6 Phenotype details see paper; ..., hydrocephalus, occipital encephalocele; born 37w1d, weight 3,954 grams (+4.2SD), length 52.0 cm (+2.5SD), OFC 46.0 cm (+11SD); soon after birth placement ventricularperitoneal shunt for severe hydrocephalus; neonatal period exhibited frequent apneic spells, both obstructive and central components; frequency apneic spells (treated with bidirectional positive airway pressure) increased during infancy; ECG no epileptogenic activities; 5y-poor growth, weight 7.6 kg (−4.0SD), height 85 cm (−4.9SD), severe intellectual disability, no intelligible words, distinctive facies, widely spaced eyes, esotropia, tall ears, depressed nasal bridge, post-axial polydactyly both hands, T1-weighted MRI brain occipital encephalocele, severe hydrocephalus, abdominal ultrasound showed multicystic lesions kidney, ultrasound no intrahepatic fibrosis, no hepatic dysfunction on blood tests Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset <00y00m01d 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 2021-10-11 17:16:21 +02:00 (CEST) Date last edited N/A

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