Global Variome shared LOVD

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

Phenotype #0000308355 Individual ID 00416845 Associated disease MCLMR Inheritance Familial, autosomal dominant Phenotype details brain magnetic resonance imaging: normal; additional clinical featureschorioretinopathy, mild developmental delay, hip dysplasia (mother with microcephaly and learning problems) Diagnosis/Initial - Age/Examination 2y (2 years) Diagnosis/Definite Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [MIM 152950] Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-08 10:25:47 +02:00 (CEST) Date last edited N/A

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