Global Variome shared LOVD

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

Phenotype #0000337694 Individual ID 00448517 Associated disease IMNEPD Phenotype details Secondary microcephaly, Progressive gait ataxia, Abnormal foot morphology, Intellectual disability, Sensorineural hearing impairment, Neurodevelopmental delay Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-03-21 13:04:23 +01:00 (CET) Date last edited 2024-03-22 00:47:43 +01:00 (CET)

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