Phenotype #0000143342

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00181092
Associated disease	SLS
Phenotype details	HP:0007503 (Gen. Ichth.); HP:0001258 (Spastic paraplegia); HP:0007266 (Cerebral dysmyelination, periventricular); HP:0001263 (Global developmental delay); HP:0001347 (Hyperreflexia)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	00y08m (8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Maximilian Weustenfeld
Database submission license	No license selected
Created by	Maximilian Weustenfeld
Date created	2018-09-25 12:05:26 +02:00 (CEST)
Date last edited	2018-09-27 21:47:44 +02:00 (CEST)

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