Disease #00319 (PCH6 (hypoplasia, pontocerebellar, type 6 (PCH-6)), OMIM:611523)

Official abbreviation PCH6
Name hypoplasia, pontocerebellar, type 6 (PCH-6)
OMIM ID 611523
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene RARS2
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-02-02 21:24:34 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00004531 - - - - no - - - - - - PCH6 neonatal lactic acidosis, hypotonia, developmental delay, seizures, cortical atrophy, pontocerebellar hypoplasia on MRI RARS2 RARS2 2 1 Carl Fratter
00004532 - - - - no - - - - - - PCH6 neonatal lactic acidosis, developmental delay, microcephaly, cortical atrophy, pontocerebellar hypoplasia on MRI RARS2 RARS2 2 1 Carl Fratter
00234052 - - - - - - - - - - - PCH6 severe developmental delay, seizures, microcephaly - RARS2 2 1 Carolina Courage
00306853 - - - M no Italy - - - - - PCH6 neurodevelopmental delay. myoclonic seizures, , axial hypotonia with distal hypertonia, microcephaly, mixed hearing loss, abnormal breathing pattern, cryptorchidism - RARS2 2 1 Enza Maria Valente
00334933 PME12 PubMed: Courage 2021, Journal: Courage 2021 family, 2 affected (F, M) F no Italy - - - - - PCH6 Sibling -pair with childhood onset mild progressive ataxia, mild predominantly upper limb action myoclonus, occasional TCS and absence seizures. Childhood onset cognitive impairment diagnosed prior to onset of myoclonus and ataxia. MRI unremarkable. - RARS2 2 2 Carolina Courage
00334935 PME13 PubMed: Courage 2021, Journal: Courage 2021 relative of PME12 M no Italy - - - - - PCH6 see sib - RARS2 2 1 Carolina Courage
00334936 PME14 PubMed: Courage 2021, Journal: Courage 2021 - F no Italy - - - - - PCH6 Onset 25 years of prominent progressive action myoclonus. Normal developmental history, normal cognition. No ataxia, no TCS. Scoliosis and ovarian insufficiency. - RARS2 2 1 Carolina Courage
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