Disease #05585 (PEBAS (encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS)), OMIM:617669)

Global Variome shared LOVD

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Official abbreviation	PEBAS
Name	encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS)
OMIM ID	617669
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	TRAPPC12
Associated tissues	-
Disease features	autosomal recessive
Remarks	-
Date created	2019-03-19 15:51:39 +01:00 (CET)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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