Disease #01641 (MTDPS4A (mitochondrial DNA depletion syndrome, type 1 (MTDPS-4A, progressive sclerosing poliodystrophy)), OMIM:203700)

Official abbreviation MTDPS4A
Name mitochondrial DNA depletion syndrome, type 1 (MTDPS-4A, progressive sclerosing poliodystrophy)
OMIM ID 203700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 1
Associated with 1 gene POLG
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00428412 208205 - - M no Germany - - - - - MTDPS4A - - - - 1 Andreas Laner
00428413 208205 - - M no Germany - - - - - MTDPS4A Status epilepticus, Refractory drug response, Developmental stagnation at onset of seizures, Hemiparesis, Myoclonus, Decreased liver function, Fatal liver failure in infancy, Seizure, Developmental stagnation at onset of seizures, Infantile muscular hypotonia POLG POLG 2 1 Andreas Laner
00467550 - - - M no Egypt - 5 years - - - MTDPS4A - POLG POLG 2 1 Mohamed A. Elmonem
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