Phenotype #0000079578

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00101374
Associated disease	HGPPS2
Phenotype details	Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Global motor delay, horizontal gaze palsy, intellectual disability, scoliosis.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Ashley Marsh
Database submission license	No license selected
Created by	Ashley Marsh
Date created	2017-03-24 12:42:36 +01:00 (CET)
Date last edited	2017-04-15 05:44:45 +02:00 (CEST)

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