All individuals with variants in gene ATP9A

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) 1 1 Yu Sun
00412326 FamAPatII1 PubMed: Vogt 2022 2-generation family, 2 affected brothers M yes Syria - - - - - NDD see paper; ..., length 125 cm (−3.71 SD), weight 26.3 kg (−2.95 SD), OFC 49.5 cm (−3.10 SD); motor delay (HP:0001270); speech delay (HP:0000750); fine motor impairment (HP:0007010); mild intellectul disability (HP:0001256); hyperactivity (HP:0000752); short attention span (HP:0000736); sleep disturbance (HP:0002360); postnatal microcephaly (HP:0005484); smooth philtrum (HP:0000319); thin upper lip vermilion (HP:0000219); strabismus (HP:0000486); 2–3 toe cutaneous syndactyly (HP:0005709); no high palate (-HP:0000218); no hypoplasia of the cerebellar vermis (-HP:0006817); no hypoplasia of the corpus callosum (-HP:0002079); no delayed myelination (-HP:0012448); nausea and vomiting (HP:0002017); gastro-oesophageal reflux (HP:0002020); failure to thrive (HP:0001508) 1 2 Johan den Dunnen
00412327 FamAPatII2 PubMed: Vogt 2022 brother M yes Syria - - - - - NDD see paper; ..., birth 38w+1, weight 3492 g (0.36 SD), length 56 cm (2.08 SD), OFC 34.5 cm (−0.33 SD); length 101 cm (−1.66 SD), weight 13.8 kg (−2.50 SD), OFC 48 cm (−2.33 SD); motor delay (HP:0001270); speech delay (HP:0000750); fine motor impairment (HP:0007010); mild intellectul disability (HP:0001256); no hyperactivity (-HP:0000752); short attention span (HP:0000736); no sleep disturbance (-HP:0002360); postnatal microcephaly (HP:0005484); smooth philtrum (HP:0000319); thin upper lip vermilion (HP:0000219); no strabismus (-HP:0000486); no 2–3 toe cutaneous syndactyly (-HP:0005709); no high palate (-HP:0000218); nausea and vomiting (HP:0002017); gastro-oesophageal reflux (HP:0002020); failure to thrive (HP:0001508) 1 1 Johan den Dunnen
00412328 FamBPatII1 PubMed: Vogt 2022 - M yes Turkey - - - - - NDD see paper; ..., birth 41w+2, weight 3570 g (−0.41 SD), length 50 cm (−1.37 SD), OFC 34 cm (−1.47 SD); length 121 cm (−3.10 SD), weight 19.6 kg (−4.01 SD), OFC 48 cm (−3.58 SD); motor delay (HP:0001270); speech delay (HP:0000750); fine motor impairment (HP:0007010); severe intellectul disability (HP:0010864); no hyperactivity (-HP:0000752); short attention span (HP:0000736); sleep disturbance (HP:0002360); postnatal microcephaly (HP:0005484); smooth philtrum (HP:0000319); thin upper lip vermilion (HP:0000219); no strabismus (-HP:0000486); 2–3 toe cutaneous syndactyly (HP:0005709); high palate (HP:0000218); hypoplasia of the cerebellar vermis (HP:0006817); hypoplasia of the corpus callosum (HP:0002079); delayed myelination (HP:0012448); nausea and vomiting (HP:0002017); gastro-oesophageal reflux (HP:0002020); failure to thrive (HP:0001508) 1 1 Johan den Dunnen
00449869 - - - F - - - - - - - SCZD Short stature, Psychomotor delay, Intellectual deficiency, moderate, Attention deficit hyperactivity disorder, Sleep abnormality, Microcephaly 2 1 Camille Verebi
00450473 - - - F - Spain - - - - - ? - 2 1 Marie-Laure Vuillaume
00450474 - - - M no France - - - - - ? - 1 1 Marie-Laure Vuillaume
00450475 - - - F - Belgium - - - - - ? - 1 1 Marie-Laure Vuillaume
00450476 - - - - - Belgium - - - - - ? - 1 1 Marie-Laure Vuillaume
00450477 - - - F yes France - - - - - ? - 1 1 Marie-Laure Vuillaume
00450478 - - - M - France - - - - - ? - 1 1 Marie-Laure Vuillaume
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