All individuals with variants in gene AMPD2

19 entries on 1 page. Showing entries 1 - 19.
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00095149 - PubMed: Novarino 2014, Journal: Novarino 2014 6-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F;M yes - - - - - - ? see paper; …, spastic paraplegia 1 2 Johan den Dunnen
00133645 - - - M yes Turkey - 00y13m - - - PCH9 Postnatal microcephaly (HP:0005484), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), partial agenesis of the corpus callosum (HP:0001338), abnormality of brainstem morphology (HP:0002363), motor delay (HP:0001270), muscular hypotonia of the trunk (HP:0008936), apnea (HP:0002104), intellectual disability, profound (HP:0002187), spasticity (HP:0001257), Sleep disturbance (HP:0002360), postprandial hyperglycemia (HP:0011998), gastroesophageal reflux (HP:0002020) 1 1 Fanny Kortüm
00133661 - - - M yes Sri Lanka - - - - - PCH9 Microcephaly (HP:0000252), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), aplasia/Hypoplasia of the corpus callosum (HP:0007370), abnormality of brainstem morphology (HP:0002363), motor delay (HP:0001270), muscular hypotonia of the trunk (HP:0008936), intellectual disability (HP:0001249), spasticity (HP:0001257) 1 1 Fanny Kortüm
00133662 - - two-generation family with 2 affecteds (sister and brother) F no - - - - - - PCH9 - 2 2 Fanny Kortüm
00133663 - - two-generation family with two affected brothers, healthy non-consanguineous parents M no - - - - - - PCH9 Postnatal microcephaly (HP:0005484), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), abnormality of brainstem morphology (HP:0002363), motor delay (HP:0001270), muscular hypotonia of the trunk (HP:0008936),intellectual disability (HP:0001249), opisthotonus (HP:0002179), Aplasia/Hypoplasia of the corpus callosum (HP:0007370), visual impairment (HP:0000505) 2 2 Fanny Kortüm
00133664 - - - M yes India - - - - - PCH9 Microcephaly (HP:0000252), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), hypoplasia of the corpus callosum (HP:0007370), hypoplasia of the brainstem (HP:0007362), motor delay (HP:0001270), intellectual disability, profound (HP:0002187), spasticity (HP:0001257), tonic seizures (HP:0011167) 1 1 Fanny Kortüm
00133665 - - - - - - - - - - - PCH9 - 1 1 Fanny Kortüm
00164821 II-1 PubMed: Marsh 2017 - M yes - Middle Eastern 02y - - - PCH9 Cognitive milestones: Severely delayed OFC: 43 (-5.4 SD) Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: “Figure 8” Corpus callosum: Complete ACC 1 1 Ashley Marsh
00164822 - PubMed: Marsh 2015 Five affected offspring (2M:3F) from a consanguineous union - yes - Middle Eastern - - - - PCH9 Cognitive milestones: Severely delayed OFC: -3.6 (-4.6 SD) Cerebellum: Hypoplasia Pons: Mild hypoplasia Brainstem: “Figure 8” + Hypoplasia Corpus callosum: Complete ACC 1 1 Ashley Marsh
00164823 LD_0673.0A PubMed: Vanderver 2016 - F yes Pakistan - - - - - PCH Cognitive milestones: Absent OFC: Microcephaly Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: Hypoplasia Corpus callosum: Abnormal 1 1 Ashley Marsh
00164824 - PubMed: Severino 2017 - F no - - 03y - - - PCH9 Cognitive milestones: Delayed OFC: Microcephaly Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: “Figure 8” Corpus callosum: Complete ACC 2 1 Ashley Marsh
00164825 - PubMed: Accogli 2017 The probands are 2 girls (IV:1, aged 9 years and IV:3 aged 8 years) and 1 boy (IV:2, aged 7 years) born to first-cousin parents from the Middle East - yes - Middle Eastern - - - - PCH9 Cognitive milestones: Delayed OFC: Microcephaly Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: “Figure 8” Corpus callosum: Hypoplasia 1 1 Ashley Marsh
00164826 PCH/CCH‐1298‐4‐2 PubMed: Akizu 2013 - M yes Saudi Arabia - - - - - PCH9 Cognitive milestones: Delayed OFC: ‐5 (‐6 SD) Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: “Figure 8” Corpus callosum: Severe hypoplasia 1 1 Ashley Marsh
00164827 PCH‐1022‐3‐2 PubMed: Akizu 2013 - F yes Turkey - - - - - PCH9 Cognitive milestones: Absent OFC: -7 (‐8 SD) Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: “Figure 8” Corpus callosum: Severe hypoplasia 1 1 Ashley Marsh
00164828 PCH‐1631‐3‐1 and PCH‐1631‐3‐2 PubMed: Akizu 2013 - M yes Saudi Arabia - - - - - PCH9 Cognitive milestones: Absent OFC: ‐6.5 (‐7.5 SD) Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: “Figure 8” Corpus callosum: Severe hypoplasia 1 2 Ashley Marsh
00164829 PCH‐1236‐3‐2 and PCH‐1236‐3‐3 PubMed: Akizu 2013 - F yes Egypt - - - - - PCH9 Cognitive milestones: Absent OFC: -6.5 (‐7.5 SD) Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: “Figure 8” Corpus callosum: Severe hypoplasia 1 2 Ashley Marsh
00164830 PCH‐1391‐5‐4 PubMed: Akizu 2013 - M yes Egypt - - - - - PCH9 Cognitive milestones: Absent OFC: ‐5 Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: “Figure 8” Corpus callosum: Severe hypoplasia 1 1 Ashley Marsh
00307146 - - - M - - - - - - - ? Leukodystrophy (HP:0002415); CNS hypomyelination (HP:0003429) 1 1 Andreas Laner
00361577 13DG0104 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; global developmental delay, seizures, pontocerebellar hypoplasia 1 1 Johan den Dunnen
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