All individuals with variants in gene TSPYL2

3 entries on 1 page. Showing entries 1 - 3.
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00172896 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00307076 Pat1 PubMed: Motta 2020, Journal: Motta 2020 - M no Italy white - - - - NDD birth height 53 cm (+1.65 SD), weight 3,650 g (+0.6 SD); height 157 cm (-0.04 SD), weight 45.5 kg (-0.01 SD), OFC 59 cm (+2.82 SD); developmental delay; no intellectual disability; no speech dealy; anxiety, reduced stress tolerance; learning disorder; no hypotonia; no epilepsy; mitral regurgitation, mitral valve prolapse, patent foramen ovale; pes planus, scapular winging, cubitus valgus; epicanthal folds, blue eyes, hypertelorism, low- set posteriorly rotated ears, webbed/short neck; curly and thick hair, multiple lentigines; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems 1 1 Johan den Dunnen
00435497 Pat15 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., pregnancy small for gestational age, C-section; birth 38w+0d; no language/speech delay, 19.5, but inconsistent use of words; consistent use of words 29m; motor delay, 25m-first steps; moderate intellectual disability; autism spectrum disorder; ADHD, aggression, problems in social interaction; no psychosis/schizophrenia; no use psychiatric drugs; sleep apnea; absence seizures and GTC; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; hypertelorism, synorphys, fine upper lip hair, deep set elanguage/speech delay, prominent upper nasal bridge with downturned nasal tip, short filtrum, prognathism, cheeks full (steroids), hypodontia, microdontia, wide hands, minimal hypermobility elbows, cryptorchidism; no lip/cleft palate; no hypermetropia/myopia; strabismus (exotropia); normal hearing; no recurrent ear infections; congenital heart disease (PDA); neonatal feeding difficulties, admitted to NICU for 8d for feeding difficulties; gastroesophageal reflux; constipation; on ketogenic diet; no skin hyperlaxity; no genitourinary abnormalities; cryptorchidism; admitted for pneumonia and was given dose of antibiotics which showed a "transformative improvement " in cognition/behavior after antibiotic administration. Dad describes change as using more words, longer attention span. Only temporary. He then received a steroid transfusion which again showed huge improvement which gradually wears off. He is now on oral prednisone, he gets crushed prednisone every 3 days, shown to have huge improvements to cognition and then he regresses back to his baseline. NYU plan is to bring him back in and do a few rounds of steroid pulse therapy. 1 1 Johan den Dunnen
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