All individuals with variants in gene ATP8A2

30 entries on 1 page. Showing entries 1 - 30.
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00235344 - PubMed: Onat 2013 3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Turkey - - - - - ? see paper; ... 1 1 Johan den Dunnen
00235351 Family 1 PubMed: Alsahli 2018 4-generation family, 4 affected siblings (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - CAMRQ see paper; ... 1 4 Johan den Dunnen
00235352 Family 2 PubMed: Alsahli 2018 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - CAMRQ see paper; ... 1 4 Johan den Dunnen
00235353 Family 3 PubMed: Alsahli 2018 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - CAMRQ see paper; ... 1 2 Johan den Dunnen
00235354 Pat1 PubMed: McMillan 2018 - F - Canada;Algeria - - - - - CAMRQ see paper; … 2 1 Johan den Dunnen
00235355 Pat2 PubMed: McMillan 2018 - F - United States - - - - - CAMRQ see paper; … 2 1 Johan den Dunnen
00235356 Pat3 PubMed: McMillan 2018 - F yes Turkey - - - - - CAMRQ see paper; … 1 1 Johan den Dunnen
00235357 Pat4 PubMed: McMillan 2018 - F yes Morocco - - - - - CAMRQ see paper; … 1 1 Johan den Dunnen
00235358 Pat5 PubMed: McMillan 2018 - M yes Sri Lanka - - - - - CAMRQ see paper; … 1 1 Johan den Dunnen
00235359 Pat6 PubMed: McMillan 2018 - F yes Iran - - - - - CAMRQ see paper; … 1 1 Johan den Dunnen
00235360 Pat7 PubMed: McMillan 2018 - M yes Iran - - - - - CAMRQ see paper; … 1 1 Johan den Dunnen
00235361 Pat8 PubMed: McMillan 2018 - M - Lebanon - - - - - CAMRQ see paper; … 1 1 Johan den Dunnen
00235362 Pat9 PubMed: McMillan 2018 - F - Lebanon - - - - - CAMRQ see paper; … 1 1 Johan den Dunnen
00235363 Pat10 PubMed: McMillan 2018 - F yes Spain - - - - - CAMRQ see paper; … 1 1 Johan den Dunnen
00235364 Pat11 PubMed: McMillan 2018 - F - Argentina;Spain - - - - - CAMRQ see paper; … 2 1 Johan den Dunnen
00235366 Fam1Pat1 PubMed: Martín-Hernández 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Spain - - - - - ? encephalopathy, intellectual disability, severe hypotonia, chorea, optic atrophy 1 1 Johan den Dunnen
00235367 Fam2Pat2 PubMed: Martín-Hernández 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Spain - - - - - ? see paper; ..., encephalopathy, intellectual disability, severe hypotonia, chorea, optic atrophy 2 1 Johan den Dunnen
00235369 patient PubMed: Cacciagli 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - France - - - - - ? see paper; ... 2 1 Johan den Dunnen
00295630 PatA1 PubMed: Heidari 2021, Journal: Heidari 2021 2-generation family, 1 affected, unaffected parents M yes Iran - 09y - - - CAMRQ4 developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; 1y-seizures generalized tonic-clonic; choreathetosis (especially upper limbs); no tremor; head titubation; normal lower limbs deep tendon reflexes, normal upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 1y-first words; microcephaly; MRI brain normal; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; no pes planus; feeding difficulties; oligodontia, dental malalignment, delayed totth eruption; no gingival hyperplasia; no joint stiffness 1 1 Ehsan Jafarinia
00295631 PatA2 PubMed: Heidari 2021, Journal: Heidari 2021 2-generation family, 1 affected, unaffected parents M yes Iran - 07y - - - CAMRQ4 developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; no seizures; choreathetosis (especially upper limbs); no tremor; head titubation; decreased lower limbs deep tendon reflexes, decreased upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 5y6m-first words; no microcephaly, below-average head circumference; MRI brain mild frontotemporal cortical atrophy, deepening of bilateral sylvian fissure, abnormal opercularization, thinning of the corpus callosum, white matter volume loss; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; mild pes planus; feeding difficulties; dental malalignment, early dental decay, delayed tooth eruption; gingival hyperplasia; joint stiffness 1 1 Ehsan Jafarinia
00295632 PatA3 PubMed: Heidari 2021, Journal: Heidari 2021 2-generation family, 1 affected, unaffected parents M yes Iran - 02y - - - CAMRQ4 developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; generalized tonic-clonic seizures; choreathetosis (especially upper limbs); no tremor; head titubation; normal lower limbs deep tendon reflexes, normal upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 10m-first words; no microcephaly, below-average head circumference; MRI brain normal; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; pes planus; feeding difficulties; dental malalignment, early dental decay, delayed tooth eruption; mild gingival hyperplasia; joint stiffness 1 1 Ehsan Jafarinia
00301700 17-3865 PubMed: Maddirevula 2019 - M yes Jordan - - - - - ? 3y-developmental delay. His evaluation confirmed global developmental delay and revealed the presence of dyskinetic movement. Brain MRI was suggestive of leukodystrophy. EEG was abnormal with multifocal activity. He has two healthy siblings. 1 1 Johan den Dunnen
00307935 15DG2032 PubMed: Anazi 2017 familial M - - - - - - - ID see paper; ..., Global developmental delay; Hypotonia, Hyporeflexia 1 1 Johan den Dunnen
00307936 17DG0764 PubMed: Anazi 2017 familial F - - - - - - - ID see paper; ..., Global developmental delay; Hypotonia, Hyporeflexia, Choreoathetosis, Generalized muscle weakness 1 1 Johan den Dunnen
00314874 Trio40 PubMed: Zhu 2015 - F - United States - - - - - ? Microcephaly, developmental delay and hypotonia, seizures. 1 1 Johan den Dunnen
00374221 S-3386 PubMed: Ganapathy 2019 - - - India - - - - - ? Global developmental delay and dystonia 1 1 Johan den Dunnen
00374539 S-3831 PubMed: Ganapathy 2019 - - - India - - - - - ? delayed motor development, hypotonia and muscle weakness 1 1 Johan den Dunnen
00374667 S-3679 PubMed: Ganapathy 2019 - - - India - - - - - ? - 2 1 Johan den Dunnen
00407874 PatGL-13 PubMed: Oud 2020 - M - Lebanon - - - - - INFM see paper; ..., globozoospermia 1 1 Johan den Dunnen
00426112 61BN1100 PubMed: Al-Kasbi 2022 patient, other affecteds in family F - Oman - - - - - ID - 1 1 Johan den Dunnen
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