Global Variome shared LOVD

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Phenotype #0000350759 Individual ID 00465223 Associated disease ? Diagnosis/Initial fetal anomalies Diagnosis/Definite - Phenotype details see paper; ..., 13wg-antenatal ultrasound microcephaly, lower limb in hyperextension; birth 37wg, weight 1760 g, microcephaly (OFC 24.5 cm), incomplete Pierre Robin sequence (mandibular hypoplasia, glossoptosis, upper airway obstruction without cleft palate), clubfoot, camptodactylia, pulmonary hypoplasia; deceased minutes after birth, limbs malformation, severe microcephaly, dysmorphic features face (broad nasal root, flat face, deep crease philtrum, long thin upper lip, large ears), brain impairment cortical development, absence of layer organisation, deep columns of defective migrating cells Inheritance Familial, autosomal recessive Age/Examination 00y00m00d () Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-04-17 19:55:06 +02:00 (CEST) Date last edited N/A

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