Global Variome shared LOVD

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Phenotype #0000041340 Individual ID 00054661 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; born following uncomplicated pregnancy/de-livery; 2w-microcephaly (2y OFC 42.1 cm (−4-5SD)); delayed development, sat_support-18, not_walk-3y, speech delayed (3y 10-15 single word sentences), poor concentration, hyperactive, no seizures, mild facial dysmorphism, long palpebral fissures, bulbous nose tip, wide mouth, no brachytelephalangy Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset global developmental delay, microcephaly 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 2015-11-07 19:19:56 +01:00 (CET) Date last edited N/A

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