All individuals with variants in gene PDCD10

25 entries on 1 page. Showing entries 1 - 25.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 3 1 Yu Sun
00153316 - - - M no Taiwan - - - - - CCM3 - 1 1 Kang-Yang Jih
00165081 ? - - - - Italy - - - - - CCM - 1 1 Carmela Fusco
00165082 ? - - - - Italy - - - - - CCM - 1 1 Carmela Fusco
00165083 ? - - - - Italy - - - - - CCM - 1 1 Carmela Fusco
00165085 ? - - - - Italy - - - - - CCM - 1 1 Carmela Fusco
00165700 ? PubMed: Nardella 2018 family, 1 affected - - Italy white - - - - CCM Headache (HP:0002076), Sovratentorial hemangiomas, Behavioural psychiatric abnormalities (HP:0000708) 1 1 Carmela Fusco
00170860 36 - - F ? Italy - - - - - CCM3 Intracranial haemorrhage, fatigable weakness of skeletal, Hemiparesis (HP:0001269), Sovratentorial hemangiomas 1 1 Carmela Fusco
00170861 38 - - M ? Italy - - - - - CCM3 Behavioural psychiatric abnormalities (HP:0000708), Cerebellar hemangiomas 1 1 Carmela Fusco
00170862 39 - - M ? Italy - - - - - CCM3 Behavioural psychiatric abnormalities (HP:0000708) 1 1 Carmela Fusco
00170863 40 - - F - Italy - - - - - CCM3 Headache (HP:0002076), Behavioural psychiatric abnormalities (HP:0000708), Sovratentorial hemangiomas 1 1 Carmela Fusco
00411198 - - patient had both DMD and CCM M no China Asian - - - - CCM, DMD abnormal cerebral vascular morphology (HP:0100659), no seizures (-HP:0001250), no paralysis (-HP:0003470), no headache (-HP:0002315), Gowers sign (HP:0003391), generalized hypotoniav (HP:0001290), calf muscle pseudohypertrophy (HP:0003707), waddling gait (HP:0002515), elevated circulating creatine kinase concentration (HP:0003236) 1 1 Detong Guo
00418518 Fam15 PubMed: He 2022 - - - China - - - - - ? - 1 1 Johan den Dunnen
00419079 - PubMed: Nardella 2018 - - - Italy - - - - - CCM - 1 1 Johan den Dunnen
00419080 - PubMed: Nardella 2018 - - - Italy - - - - - CCM - 1 1 Johan den Dunnen
00419081 sporadic PubMed: Nardella 2018 family, 2 affected M - Italy - - - - - CCM spinal hemangiomas 1 2 Johan den Dunnen
00419082 - PubMed: Nardella 2018 - - - Italy - - - - - CCM - 1 1 Johan den Dunnen
00419083 - PubMed: Nardella 2018 - - - Italy - - - - - CCM - 1 1 Johan den Dunnen
00419084 - PubMed: Nardella 2018 - - - Italy - - - - - CCM - 1 1 Johan den Dunnen
00419085 FamVIIIPatII2 PubMed: Nardella 2018 3-generation family, family, 4 affected (2F, 2M) M - Italy - - - - - CCM headache/migraine (HP:0002076); intracranial hemorrhage; behavioral abnormalities (HP:0000708); sovratentorial hemangiomas; cerebellar hemangiomas; bilateral lesions 1 4 Johan den Dunnen
00419086 FamVIIIPatIII1 PubMed: Nardella 2018 daughter F - Italy - - - - - CCM intracranial hemorrhage; fatigable weakness skeletal muscles (HP:0030197); hemiparesis (HP:0001269); spinal hemangiomas 1 1 Johan den Dunnen
00419087 FamVIIIPatIII2 PubMed: Nardella 2018 daughter F - Italy - - - - - CCM behavioral abnormalities (HP:0000708); cerebellar hemangiomas 1 1 Johan den Dunnen
00419088 FamVIIIPatIII3 PubMed: Nardella 2018 son M - Italy - - - - - CCM behavioral abnormalities (HP:0000708) 1 1 Johan den Dunnen
00419089 - PubMed: Nardella 2018 - - - Italy - - - - - CCM - 1 1 Johan den Dunnen
00467713 patient PubMed: Guo 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - CCM, DMD multiple abnormal signals frontotemporal/parietal lobes, brainstem, right basal ganglia, and right cerebellar hemisphere, see paper; ..., 2y-weakness in both lower limbs; 6y-Gowers’ sign (difficulty going upstairs, gait with peculiar oscillating characters, characteristic ways to rise from floor), cannot run/jump, reduced strength both upper limbs; bilateral gastrocnemius muscle hypertrophy, contracture bilateral ankle joint, foot drop; significantly increased serum CK (34x) 1 1 Johan den Dunnen
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