Disease #05841 (glycine encephalopathy (encephalopathy, glycine, with normal serum glycine), OMIM:617301)

Official abbreviation glycine encephalopathy
Name encephalopathy, glycine, with normal serum glycine
OMIM ID 617301
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene SLC6A9
Associated tissues -
Disease features -
Remarks -
Date created 2020-09-28 12:40:56 +02:00 (CEST)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00311052 - - - - yes - - - - - - glycine encephalopathy neonatal onset, respiratory failure, severe hypotonia at birth that progressed to limb hypertonicity, absent neonatal reflexes, startle-like responses provoked by sudden loud sounds and tactile stimulation, severe global developmental delay, dysmorphic features, arthrogryposis multiplex congenita SLC6A9 SLC6A9 1 1 Irene Mademont Soler
00324958 - - - F no India - 01y - - - glycine encephalopathy - GCSH GCSH 1 2 Anju Shukla
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