Disease #05403 (MRT53;GPIBD13 (mental retardation, autosomal recessive, type 53 (MRT-53, glycosylphosphatidylinositol deficiency, type 13 (GPIBD-13))), OMIM:616917)

Official abbreviation MRT53;GPIBD13
Name mental retardation, autosomal recessive, type 53 (MRT-53, glycosylphosphatidylinositol deficiency, type 13 (GPIBD-13))
OMIM ID 616917
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PIGG
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2018-03-09 09:03:42 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00467516 - - - F no Brazil;(Brazil) - - - - - MRT53;GPIBD13 Myokymia (HP:0002411), Gait ataxia (HP:0002066), Peripheral nerve hyperexcitability (HP:0034351), Demyelinating motor neuropathy (HP:0007220), Muscle hypertrophy of the lower extremities (HP:0008968), EMG: myokymic discharges (HP:0100288), Febrile seizure (HP:0002373) - PIGG 1 1 Pedro Henrique Marte de Arruda Sampaio
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