Phenotype #0000283599

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00390060
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Severe intellectual disability, developmental delay, congenital muscular dystrophy, absent speech, sensorineural hearing loss, hyperCkemia, stereotypies, severe visual impairment, hydrocephaly, eczematous rash, squint
Inheritance	Familial, autosomal recessive
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-09 16:34:00 +01:00 (CET)
Date last edited	N/A

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