All individuals with variants in gene CCDC115

8 entries on 1 page. Showing entries 1 - 8.
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AscendingIndividual ID     
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00065239 26833332-Fam1PatII1 PubMed: Jansen 2016, Journal: Jansen 2016 Family, 3-affected siblings, II1 F yes Turkey Turkish >16y - - - CDG2 Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), hepatomegaly (HP:0002240), generalized hypotonia (HP:0001290), psychomotor disability (HP:0001263), mild dysmorphic features (HP:0001999) 1 3 Jamie Zeegers
00065243 26833332-Fam1PatII2 PubMed: Jansen 2016, Journal: Jansen 2016 Family, 3-affected siblings, II2 M yes Turkey Turkish >12y - - - CDG2 Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), hepatomegaly (HP:0002240), generalized hypotonia (HP:0001290), psychomotor disability (HP:0001263), mild dysmorphic features (HP:0001999), long face (HP:0000276), ptosis (HP:0000508), blue sclerae (HP:0000592), down-slanted palpebral fissures (HP:0000494), muscle atrophy (HP:0003202) 1 1 Jamie Zeegers
00065244 26833332-Fam1PatII4 PubMed: Jansen 2016, Journal: Jansen 2016 Family, 3-affected siblings, II4 F yes Turkey Turkish >04y - - - CDG2 Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), hepatomegaly (HP:0002240), no generalized hypotonia (-HP:0001290), psychomotor disability (HP:0001263) 1 1 Jamie Zeegers
00065245 26833332-Fam2PatII1 PubMed: Jansen 2016, Journal: Jansen 2016 only child M no Italy Italian >08y - - zinc treatment CDG2 Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), hepatomegaly (HP:0002240), no generalized hypotonia (-HP:0001290), psychomotor disability (HP:0001263), mild dysmorphic features (HP:0001999), copper accumulation (HP:?) 1 1 Jamie Zeegers
00065247 26833332-Fam3PatII2 PubMed: Jansen 2016, Journal: Jansen 2016 Family, 1-unaffected brother, II2 F no France French >27y - - Phototherapy, risperidone and lamotrigine CDG2 Abnormal protein N-linked glycosylation (HP:0012347), no abnormal protein O-linked glycosylation (-HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), no hepatomegaly (-HP:0002240), hypotonia (HP:0001252), psychomotor disability (HP:0001263), fibrosis (HP:0001395), steatosis (HP:0001397), necrotic lesions (HP:?), seizures (HP:0001250), hypercholesterolemia (HP:0003124), behavioral problems (HP:0000708), aggressiveness (HP:0000718), agitation (HP:0000713), psychotic behavior (HP:0000725) 1 1 Jamie Zeegers
00065249 26833332-Fam4PatII1 PubMed: Jansen 2016, Journal: Jansen 2016 Family, 2-affected siblings, F4-II1 M yes Turkey Turkish 09y - - - CDG2 Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), hypotonia (HP:0001252), liver failure (HP:0001399), mild dysmorphic features (HP:0001999), mild psychomotor disability (HP:0001263) 1 2 Jamie Zeegers
00065251 26833332-Fam4PatII2 PubMed: Jansen 2016, Journal: Jansen 2016 Family, 2-affected siblings, F4-II2 F yes Turkey Turkish >13y - - Liver transplantation CDG2 Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), mild dysmorphic features (HP:0001999), liver failure (HP:0001399) 1 1 Jamie Zeegers
00065252 26833332-Fam5PatII1 PubMed: Jansen 2016, Journal: Jansen 2016 Only child F no Portugal Portuguese 00y07m - - - CDG2 Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), hepatomegaly (HP:0002240), generalized hypotonia (HP:0001290), no psychomotor disability (-HP:0001263), failure to thrive (HP:0001508), redundant skin (HP:0001582), poor muscle volume (HP:?), hypoglycemia (HP:0001943), hyperammonemia (HP:0001987), progressive cholestatic liver disease (HP:0002611), liver failure (HP:0001399), hypercholesterolemia (HP:0003124), abnormal coagulation factors (HP:?), anemia (HP:0001903) 2 1 Jamie Zeegers
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