All individuals with variants in gene VPS53

11 entries on 1 page. Showing entries 1 - 11.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 6 1 Yu Sun
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) 5 1 Yu Sun
00104037 Vogelaar-760A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00384987 Fam1 PubMed: Hady-Cohen 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Israel Jewish;Morocco - - - - NDD see paper; ..., severe global developmental delay (HP:0001263), profound intellectual disability (HP:0001249), microcephaly (HP:0000252), limb and facila edema (HP:0000969), early-onset epilepsy (HP:0001250), spasticity (HP:0001257), optic atrophy (HP:0001138); abnormal brain morphology (HP:0012443), normal/mild unspecific anomalies early in life followed by cerebellar and cerebral atrophy; no cholestasis (-HP:0001396); failure to thrive (HP:0001508) 2 1 Johan den Dunnen
00384988 Fam2 PubMed: Feinstein 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Israel Jewish;Morocco - - - - NDD see paper; ..., severe global developmental delay (HP:0001263), profound intellectual disability (HP:0001249), microcephaly (HP:0000252), early-onset epilepsy (HP:0001250), progressive spastic quadriplegia, opisthotonos (HP:0001257), irritability (HP:0000737), no optic atrophy (-HP:0001138); abnormal brain morphology (HP:0012443), normal early in life followed by cerebellar, cerebral and corpus callosum atrophy; no cholestasis (-HP:0001396) 2 2 Johan den Dunnen
00385096 Fam3 PubMed: Feinstein 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - Israel Jewish;Morocco - - - - NDD see paper; ..., severe global developmental delay (HP:0001263), profound intellectual disability (HP:0001249), microcephaly (HP:0000252), early-onset epilepsy (HP:0001250), progressive spastic quadriplegia, opisthotonos (HP:0001257), irritability (HP:0000737), no optic atrophy (-HP:0001138); abnormal brain morphology (HP:0012443), normal early in life followed by cerebellar, cerebral and corpus callosum atrophy; no cholestasis (-HP:0001396) 2 2 Johan den Dunnen
00385097 Fam4 PubMed: Feinstein 2014 4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents F;M no Israel Jewish;Morocco - - - - NDD see paper; ..., severe global developmental delay (HP:0001263), profound intellectual disability (HP:0001249), microcephaly (HP:0000252), early-onset epilepsy (HP:0001250), progressive spastic quadriplegia, opisthotonos (HP:0001257), irritability (HP:0000737), no optic atrophy (-HP:0001138); abnormal brain morphology (HP:0012443), normal early in life followed by cerebellar, cerebral and corpus callosum atrophy; no cholestasis (-HP:0001396) 2 5 Johan den Dunnen
00385098 controls PubMed: Feinstein 2014 analysis 143 controls F - Israel Jewish;Morocco - - - - Healthy/Control - 1 2 Johan den Dunnen
00385099 controls PubMed: Feinstein 2014 analysis 156 controls F - Israel Jewish;Morocco - - - - Healthy/Control - 1 2 Johan den Dunnen
00385102 Fam2 PubMed: Hady-Cohen 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Israel Jewish;Morocco - - - - NDD see paper; ..., severe global developmental delay (HP:0001263), profound intellectual disability (HP:0001249), microcephaly (HP:0000252), limb and facila edema (HP:0000969), early-onset epilepsy (HP:0001250), spasticity (HP:0001257), optic atrophy (HP:0001138); abnormal brain morphology (HP:0012443), normal/mild unspecific anomalies early in life followed by cerebellar and cerebral atrophy; no cholestasis (-HP:0001396); failure to thrive (HP:0001508) 2 1 Johan den Dunnen
00385103 family PubMed: Hausman-Kedem 2019 3-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Israel Jewish;Morocco - - - - NDD see paper; ..., moderate global developmental delay (HP:0001263), mild/moderate intellectual disability (HP:0001249), no microcephaly (-HP:0000252), progressive spastic paraparesis (HP:0001257), no irritability (-HP:0000737, no optic atrophy (-HP:0001138); normal brain morphology (-HP:0012443); no cholestasis (-HP:0001396); no failure to thrive (-HP:0001508) 1 2 Johan den Dunnen
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