Global Variome shared LOVD

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

Phenotype #0000210611 Individual ID 00276055 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Small for gestational age (HP:0001518); Rudimentary postaxial polydactyly of hands (HP:0005676); Congenital microcephaly (HP:0011451); Elevated serum creatine kinase (HP:0003236); Telecanthus (HP:0000506); Epicanthus (HP:0000286); Almond-shaped palpebral fissure (HP:0007874); Inverted nipples (HP:0003186); Dandy-Walker malformation (HP:0001305) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name IMGAG Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by IMGAG Date created 2020-01-24 11:03:09 +01:00 (CET) Date last edited 2020-04-01 13:57:49 +02:00 (CEST)

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