Phenotype #0000038740

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00052121
Associated disease	KLEFS
Intellectual_dis	yes
Diagnosis/Initial	-
Phenotype details	9q subtelomeric deletion syndrome; weight 50th, height 84th, OFC <2nd; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, MRI-normal; autism spectrum; walked22m; no speech
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Age/Examination	02y07m (2 years, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	weight 2495 (<5th)
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-10-16 12:09:51 +02:00 (CEST)
Date last edited	N/A

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