Disease #00980 (hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH), OMIM:238970)

Official abbreviation -
Name hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH)
OMIM ID 238970
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 1 gene SLC25A15
Associated tissues -
Disease features -
Remarks -


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00112540 10369256-PatHHH01 PubMed: Camacho 1999 - - - Canada French - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112541 10369256-PatHHH011 PubMed: Camacho 1999 - - no United Kingdom (Great Britain) Japanese;Irish - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112542 - - - M - Turkey Turkish - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) 3.5y first speech problems; 6y hospitalized for first attack with severe tantrum, confusion, gait disturbances, loss of speech abilities, physical examination showed upward paralysis, aphasia, bilateral flask paralysis upper/lower extremities and deep tendon reflexes. Cranial CT, MRI, EMG and fundoscopic findings were normal; intolerance for protein-rich foods, presented hyperornithinemia, hyperammonemia, homocitrullinuria SLC25A15 SLC25A15 1 1 Nagehan Ersoy Tunali
00112543 - - - F - Italy - - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112544 - - - - - Italy - - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112546 - - - - - Italy - - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112549 - - - - - Japan - - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112550 - PubMed: Nakajima 1988 - - - Japan - - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112551 - - - - - Italy - - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112553 10369256-PatA PubMed: Camacho 1999 9 unrelated probands - - Canada French - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 1 9 Johan den Dunnen
00112554 - - - - - Italy - - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112558 - - - - - Italy - - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112559 - - - - - Italy - - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
00112560 - - - - - Italy - - 0 - - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) - SLC25A15 SLC25A15 2 1 Johan den Dunnen
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