Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000078871 Individual ID 00100641 Associated disease ? Diagnosis/Initial microcephalic primordial dwarfism Diagnosis/Definite - Phenotype details microcephalic primordial dwarfism; birth 36w, weight 2000g (-1.6), length 43cm (-2.2), OFC 29 cm (-2.5); 18m length 73cm (-2.4), OFC 38.5 cm (-7.8), mild language delay (HP:0000750), early closure of metopic suture (HP:0005556), mild bilateral blepharophymosis (HP:0000581), mild aneurysm of atrial septum (HP:0011995), patent foramen ovale (HP:0001655) Inheritance Familial, autosomal recessive Age/Examination 00y18m (18 months) Age/Diagnosis - Age/Onset 00y00m00d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Lynn Boekhoudt Database submission license No license selected Created by Lynn Boekhoudt Date created 2017-03-07 13:40:02 +01:00 (CET) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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