Global Variome shared LOVD

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

Phenotype #0000344840 Individual ID 00456321 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite DCIDP Phenotype details developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; cardiac malformations; no abnormal behavior; growth failure; hearing loss; feeding difficulties; microcephaly; genital abnormalities; renal malformations; seizures; no underweight; short stature Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-24 11:13:35 +02:00 (CEST) Date last edited N/A

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