Global Variome shared LOVD

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

Phenotype #0000244973 Individual ID 00326505 Associated disease - Phenotype details HP:0002500 HP:0000486 HP:0002307 HP:0001339 HP:0000316 Diagnosis/Initial Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies Inheritance Familial, autosomal recessive Diagnosis/Definite Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies Age/Examination 02y? (approximately 2 years) Age/Diagnosis 02y? Age/Onset ? Phenotype/Onset HP:0002500, HP:0000486, HP:0002307, HP:0001339, HP:0000316 Protein PLAA Owner name Ehsan Razmara Database submission license No license selected Created by Ehsan Razmara Date created 2021-01-13 08:25:20 +01:00 (CET) Date last edited 2021-01-13 11:03:54 +01:00 (CET)

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