All individuals with variants in gene NONO

12 entries on 1 page. Showing entries 1 - 12.
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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) 2 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) 2 1 Yu Sun
00417862 - - - M - China - - - - - MRXS34 tricuspid regurgitation; abnormal myocardium morphology; ventricular septal defect; anemia; hepatic hemangioma; postnatal growth retardation; noncompaction cardiomyopathy, atrial septal defect 1 1 Xiaoyan Peng
00418356 MCCID1 PubMed: Mircsof 2015 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - ID no antenatal findings; birth weight 3370g, length 50.5cm, OFC 34cm; weight 50kg (<-2SD), height 179cm (+1SD), OFC 59cm; 3y-walk, speech short sentences; nasal speech; severe elocution disability; drooling; intellectual disability; epilepsy; strabismus, myopia; shy, gentle, cheerful; normal puberty; slender built; scoliosis; bilateral ankylosis of MCP joint of P1; pes planus; long face; upslanting palpebral fissures; malarhypoplasia; thin high nasal root, deviated nasal septum; open mouth; narrow high palate; crowding teeth; MRI brain thick corpus callosum, cyst septum pellucidum, normal ventricles, hypoplastic cerebellum 1 1 Johan den Dunnen
00418357 MCCID2 PubMed: Mircsof 2015 2 generation family, 1 affected, unaffected carrier mother M - - - - - - - ID antenatal hydranios; birth weight 2540g, length 46cm, OFC 35.5cm ; weight -2SD, height -2SD, OFC +2SD; 3y-walk, speech short sentences; nasal speech; severe elocution disability; drooling; intellectual disability; no epilepsy; strabismus; shy, gentle, cheerful; no sleeping disorder; delayed puberty; slender built; scoliosis; bilateral ankylosis of MCP joint of P1; pes planus; long face; upslanting palpebral fissures; malarhypoplasia; thin high nasal root, deviated nasal septum; small mouth, open mouth; narrow high palate; crowding teeth, carries; EEG no gross anomaly; MRI brain thick corpus callosum, asymmetric lateral ventricles, cerebellum Chiari malformation type I 1 1 Johan den Dunnen
00418358 DECIPHER PubMed: Mircsof 2015 - M - United Kingdom (Great Britain) - - - - - ID intra-uterine growth retardation; birth weight <<0.4thC, length <3rdC, OFC 10thC; weight 42kg (<0.4th), height 164.3cm (2nd-9th), OFC 55.3cm; 7y-walk, speech short sentences; no nasal speech; elocution disability; drooling; intellectual disability; no epilepsy; myopia, nystagmus-registered as partially sighted; shy with strangers, gentle, affectionate, cheerful, mood swings ; no sleeping disorder; delayed puberty; slender built; kyphosis; bilateral ankylosis of MCP joint of P1, proximal interphalangeal joint; pes planus; long face; upslanting palpebral fissures; malarhypoplasia; thin high nasal root; small mouth, open mouth; submuscous cleft, high palate, with bifid uvula; crowded protruding teeth, thickened gums; CT brain dysgenesis corpus callosum, widely spaced with a high 3rd ventricle 1 1 Johan den Dunnen
00418359 Ind1 PubMed: Scott 2017 2 generation family, 1 affected, no family history M - United States Hispanic - - - - CHD atrial septal defect, left ventricular non-compaction, patent ductus arteriosu, right ventricular hypertrophy, ventricular septal defect; no hypotonia; language delay; gross motor delay; feeding problems; MRI brain 1m-normal, 1y4m-mild truncation splenium of corpus callosum; relative macrocephaly, plagiocephaly, bilateral epicanthal folds, downslanting palpebral fissures, bilateral accessory nipples, widely spaced teeth, fifth finger clinodactyly 1 1 Johan den Dunnen
00418360 Ind2 PubMed: Scott 2017 2 generation family, 1 affected, no family history M - United States Hispanic - - - - CHD atrial septal defect, left ventricular non-compaction, patent ductus arteriosu, ventricular septal defect; hypotonia; language delay; gross motor delay; feeding problems; MRI brain 3m-normal; relative macrocephaly, frontal bossing, café au lait and hypopigmented macules, planovalgus 1 1 Johan den Dunnen
00418361 Ind3 PubMed: Scott 2017 2 generation family, 1 affected, no family history, asymptomatic mother M - United States Hispanic - - - - CHD no atrial septal defect, left ventricular non-compaction, no ventricular septal defect, patent foramen ovale; hypotonia; ischaemic brain injury; gross motor delay; no feeding problems; MRI brain 10m-underdeveloped corpus callosum, persistent cavum septum pellucidum, dilated right ventricular system, superiorly positioned fourth ventricle, mild midbrain elongation, adysplasia cerebellum and mesial surfaces occipital and inferior parietal lobules; relative macrocephaly, frontal bossing; maternal half-brother died perinatally with Ebstein anomaly, 5y maternal half-sister heart murmur 1 1 Johan den Dunnen
00418362 patient PubMed: Reinstein 2016 - M - Israel Jew-Ashkenazi;Libya - - - - ID see paper; ..., intellectual disability, developmental delay, dysmorphism, non-compaction cardiomyopathy 1 1 Johan den Dunnen
00418363 patient PubMed: Carlston 2019 2 generation family, 1 affected, unaffected carrier mother M - United States - - - - - ID see paper; ..., developmental delay, relative macrocephaly, dilated cardiomyopathy with LVNC and Ebstein anomaly.; MRI brain thick corpus callosum, mild Chiari I malformation, flattened pituitary 1 1 Johan den Dunnen
00460911 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
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