All individuals with variants in gene UBR7

9 entries on 1 page. Showing entries 1 - 9.
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00324677 Pat1 PubMed: Li 2021, Journal: Li 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD short stature; developmental delay/intellectual disability; no epilepsy; no hypotonia; ptosis; hypothyroidism; small penis; patent ductus arteriosus 2 1 Johan den Dunnen
00324678 Pat2 PubMed: Li 2021, Journal: Li 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - NDD short stature; developmental delay/intellectual disability; epilepsy; hypotonia; no ptosis; no hypothyroidism; cryptorchidism; ventricular septal defect 1 1 Johan den Dunnen
00324679 Pat3 PubMed: Li 2021, Journal: Li 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - NDD short stature; developmental delay/intellectual disability; epilepsy; hypotonia; no ptosis; hypothyroidism; cryptorchidism; patent ductus arteriosus, patent foramen ovale 2 1 Johan den Dunnen
00324680 Pat4 PubMed: Li 2021, Journal: Li 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - NDD no short stature; developmental delay/intellectual disability; epilepsy; hypotonia; ptosis; hypothyroidism; cryptorchidism; no cardiac anomalies 1 1 Johan den Dunnen
00324681 Pat5 PubMed: Li 2021, Journal: Li 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - NDD no short stature; developmental delay/intellectual disability; epilepsy; hypotonia; ptosis; hypothyroidism; cryptorchidism; no cardiac anomalies 1 1 Johan den Dunnen
00324682 Pat6 PubMed: Li 2021, Journal: Li 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes - - - - - - NDD short stature; developmental delay/intellectual disability; epilepsy; hypotonia; ptosis; no hypothyroidism; cryptorchidism; atrial septal defect 1 2 Johan den Dunnen
00324683 Pat7 PubMed: Li 2021, Journal: Li 2021 sister F yes - - 2y - - - NDD 2y-deceased; short stature; developmental delay/intellectual disability; epilepsy; hypotonia; ptosis; no hypothyroidism; no genital anomalies; ventricular septal defect 1 1 Johan den Dunnen
00380298 - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - retinal disease - 1 4 LOVD
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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