Phenotype #0000350407 - Global Variome shared LOVD

Global Variome shared LOVD

ADCY6 (adenylate cyclase 6)

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

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Phenotype #0000350407

Individual ID	00464384
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRD50
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., (growth parameters); mild-moderate intellectual disability, 9y9m-TIQ was 54 (VIQ 67 and PIQ<55); anxiety; delayed speech (HP:0000750); normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue;
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-03-08 17:44:25 +01:00 (CET)
Date last edited	N/A

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