Global Variome shared LOVD

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

Phenotype #0000078885 Individual ID 00100660 Associated disease ? Diagnosis/Initial microcephalic primordial dwarfism Diagnosis/Definite - Phenotype details microcephalic primordial dwarfism; birth 40w, weight 2330g (-2.49), length 43cm (-2.2), OFC 29 cm (-2.5); 11y1m length 120.3cm (-3.5), weight 21.4kg. Mild developmental delay (HP:0001263), Delayed bone age (HP:0002750), 5th finger clinodactyly (HP:0004209), 2/3 toe syndactyly (HP:0004691), ANA+ve arthritis Inheritance Familial, autosomal recessive Age/Examination 11y01m (11 years, 1 month) 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 2017-03-09 16:10:39 +01:00 (CET) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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