Global Variome shared LOVD

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

Phenotype #0000238544 Individual ID 00314745 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Spasticity (HP:0001257); Global developmental delay (HP:0001263); Hepatomegaly (HP:0002240); Abnormality of vision (HP:0000504); Delayed speech and language development (HP:0000750); Intellectual disability, mild (HP:0001256); Obesity (HP:0001513); Urinary incontinence (HP:0000020); Strabismus (HP:0000486); Nystagmus (HP:0000639); Low levels of vitamin D (HP:0100512); Hyperthyroidism (HP:0000836); Vitamin B12 deficiency (HP:0100502) 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 2020-10-16 12:48:01 +02:00 (CEST) Date last edited 2020-10-23 08:56:22 +02:00 (CEST)

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