Phenotype #0000241820

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00318036
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	Moderate ID, delayed CMS, speech delay, aggressive, ADHD and skin hypopigmentation. IV:1 has menorrhagia; IV:2 has spasticity, sleep disturbance and auto mutilation while IV:3 has auto mutilation and vertebral anomalies.
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-11-05 17:52:36 +01:00 (CET)
Date last edited	N/A

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