Phenotype #0000068500

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00089106
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal dominant
Phenotype details	delayed motor milestones, speech delay, hypotonia, lability of attention, intellectual disability, normal head circumference, minor dysmorphic features incl. epicanthal folds, ptosis, short philtrum, prognathism, fetal pads, protruding ears; intellectual disability (HP:0001249); speech delay (HP:0000750)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Karine Poirier
Database submission license	No license selected
Created by	Karine Poirier
Date created	2016-11-29 12:14:08 +01:00 (CET)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)