Global Variome shared LOVD

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

Phenotype #0000230699 Individual ID 00303635 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, X-linked Phenotype details Delayed gross motor development (HP:0002194); Delayed speech and language development (HP:0000750); Intellectual disability, moderate (HP:0002342); Hyperactivity (HP:0000752); Ataxia (HP:0001251); Strabismus (HP:0000486); Seizure (HP:0001250) Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein FRMPD4 Owner name Joaquin De La Torre Vela Database submission license No license selected Created by Joaquin De La Torre Vela Date created 2020-06-17 13:22:36 +02:00 (CEST) Date last edited 2020-06-17 14:15:56 +02:00 (CEST)

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