All individuals with variants in gene NLGN3

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) 3 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
00050694 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? specific learning disability, resting tremor, ataxia, prominent metopic ridge, abnormality of the hairline, absent eyelashes, abnormality of the hand, sloping forehead, silver-gray hair 1 1 Johan den Dunnen
00172849 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183158 25644381-FamL96 PubMed: Hu 2016 family, 1 affected M - - - - - - - MRX;IDX - 1 1 Johan den Dunnen
00296788 APN-99 PubMed: Redin 2014 analysis 106 patients; 3-generation family, 3 affected, 2 unaffected carrier mothers M - France - - - - - ID severe intellectual disability 1 2 Johan den Dunnen
00374749 S-4545 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374794 S-1536 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00426142 11SN7300 PubMed: Al-Kasbi 2022 patient, no other affecteds in family M - Oman - - - - - ID - 1 1 Johan den Dunnen
00428414 175065 - - M no Germany - - - - - AUTSX1 Global developmental delay, Delayed speech and language development 1 1 Andreas Laner
00435464 Pat2 PubMed: Sajan 2019 2-generation family, 1 affected, unaffected heterozygous parents ? - United States - - - - - RLSDF see paper; ..., 2y-weight 10.3 kg (8th), height 77.3 cm (5th), OFC 52.5 cm (>98th), BMI 30 kg/m2 (96th); Rhizomelic short stature most evident in upper extremity, prominent fingertip pads and simian crease left, flattening of dorsal aspect skull indicative of plagiocephaly but otherwise grossly normal; macrocephaly, short neck, micrognathia, mild proptosis, depressed nasal bridge, long smooth philtrum; difficulty gaining weight, receives physical and speech therapies, central hypotonia, bilateral mild conductive hearing loss, laryngomalacia, poplyploid anal mass which had decreased in size, brisk deep tendon reflexesMRI brain <1y-mildly delayed myelination, benign enlargement of subarachnoid spaces of infancy without aqueductal stenosis, craniocervical junction anomalies cervical region of the spine; heart murmur, mildly increased velocity in the suprapulmonic region with no pulmonary valve stenosis, a small patent foramen ovale with left to right shunting, and mild tricuspid regurgitation 1 1 Johan den Dunnen
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