All individuals with variants in gene UBR5

32 entries on 1 page. Showing entries 1 - 32.
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00449876 - - - F - - - - - - - SCZD Schizophrenia, Attention deficit hyperactivity disorder, Scoliosis, Precocious puberty, Macrocephaly 1 1 Camille Verebi
00453020 Pat2:pat3 PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - KLEFS imild ntellectual disability; language and motor delay; behavior problems, autism; no childhood hypotonia; no epilepsy; scoliosis; strabismus; cryptorchidism; brain MRI normal 1 1 Johan den Dunnen
00459492 Pat1 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no short stature; no intellectual disability; developmental delay, 9m-rolling over; autistic features, sensory issues, behavioral issues; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms; learning disability with dyslexia, hypotonia 1 1 Johan den Dunnen
00459493 Pat2 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no short stature; no intellectual disability; developmental delay; autistic features; no epilepsy; movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms; hyperkinetic movement disorder 1 1 Johan den Dunnen
00459494 Pat3 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., OFC <3rd; short stature; no intellectual disability; developmental delay; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; Pierre Robin sequence, abnormal implantation hair, triangular face, mild hypotelorism, strabism, prnoued nasal bridge, columella moderately protuse, asymmetrical ears, thin lips, left ocular hypotropia, exotropia 1 1 Johan den Dunnen
00459495 Pat4 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC <3rd; no short stature; no intellectual disability (IQ79); developmental delay, 15m-walk, speech delay, 3y-little speech, 5y-short, not always correct sentences; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; large ears, mildly downslanting palpebral fissures, high nasal root, thin upper lip, prominent incisors, high and narrow palate, long fingers and toes; behavioral issues, ADHD, aggressivity 1 1 Johan den Dunnen
00459496 Pat5 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC 88th; no short stature; intellectual disability; global developmental delay, 2y-walk, 10y-no speech; autistic features; no epilepsy; no movement disorder; genital anomalies, micropenis; no cardiac anomalies; upslanting palpebral fissure, high forehead; hypotonia 1 1 Johan den Dunnen
00459497 Pat6 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC 47th; no short stature; intellectual disability (IQ49); developmental delay, 9-10m-sit, 14m-walk, 3y-first word6y-calculating numbers up to 20, can read simple texts, cannot write, can drive mountain-E-Bike; no autistic features; no epilepsy, febrile seizure; no movement disorder; genital anomalies, partial cryptorchidism, phimosis; no cardiac anomalies; epicanthus, asymmetric, upslanting palpebral fissures, small ears, folded helix, full lower lip, retrognathia, pectus excavatum, broad thumbs, long fingers, pes valgus, 4/5 brachymetatarsalia, 2/3 syndactyly, long toes 1 1 Johan den Dunnen
00459498 Pat7 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC 95th; no short stature; no intellectual disability; developmental delay, mild delay motor development; no speech delay; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; round face, light hair color, mild hypertelorism, wide nose, anteverted nares, lLong filtrum, small chin; normally placed ears, modulated but rotated backwards,nd have a pointed shape with large; neck ck shows excess s; trunk s rather wid; on shows left postaxial appendage (withoupper limb, bilateral on shows postaxial po lower limblaterally 1 1 Johan den Dunnen
00459499 Pat8 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC >97th; no short stature; mild intellectual disability; global developmental delay, probably autism spectre disorder; borderline autism spectrum disorder; epilepsy associated with fever or infection; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms; Café au lait spots 1 1 Johan den Dunnen
00459500 Pat9 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no short stature; no intellectual disability; no developmental delay; no autistic features; no epilepsy; no movement disorder; no genital anomalies; ventricular septal defect; no dysmorphisms 1 1 Johan den Dunnen
00459501 Pat10 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC 49th; no short stature; intellectual disability; developmental delay, severe speech delay, no/minimal language, 1y2m-walk, 2y4m-climb, 2y4m-run, fine motor skills treated with occupational therapy; autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; 4 café au lait macules, one irregular in shape, one hypopigmentary macule, skin dicoloration left arm 1 1 Johan den Dunnen
00459502 Pat11 PubMed: Sabeh 2025 2-generation family, affected daughter/mother M - - - - - - - NDD see paper; ..., no short stature; no intellectual disability; no developmental delay; autistic features; epilepsy; movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms 1 2 Johan den Dunnen
00459503 Pat11mother PubMed: Sabeh 2025 mother F - - - - - - - NDD see paper; ..., dystonia, chorea, cognitive decline, seizure-like activity, migraines 1 1 Johan den Dunnen
00459504 Pat12 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC 32nd; no short stature; intellectual disability; developmental delay, very severe deficiency, hypotonia, no walk, no speech, cortical blindness; no autistic features; epilepsy; movement disorder; genital anomalies, micropenis; no cardiac anomalies; mild bitemporal retraction, anteverted lobule of ears, small mouth; dystony 1 1 Johan den Dunnen
00459505 Pat13 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., OFC 7th; no short stature; no intellectual disability, learning difficulties; global developmental delay, 2y-episode of regression, 8-9m-sit, 18m-walk, 16m-babbling, 20m-first word; autism spectrum disorder (level 3); no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; mild 5th finger clinoactyly 1 1 Johan den Dunnen
00459506 Pat14 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC 52nd; no short stature; intellectual disability; developmental delay; autistic features; epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms 1 1 Johan den Dunnen
00459507 Pat15 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC 73rd; no short stature; intellectual disability; mild developmental delay; no autistic features; no epilepsy, febrile seizure; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms 1 1 Johan den Dunnen
00459508 Pat16 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC 81st; no short stature; mild-moderate intellectual disability; global developmental delay, 2y-walk, speech delay, coordination problem, fine motor delay, tremor, agitation, ADHD; autism spectrum disorder, impulsive; no epilepsy; movement disorder; no genital anomalies; no cardiac anomalies; enophthalmia, bulbous nose, anteverted nares, high forehead; significant tremor, ADHD, behavioral issues, anxiety, motor and vocal tics induced by methylphenidate, improvement ADHD without tics under Guanfacine 1 1 Johan den Dunnen
00459509 Pat17 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., OFC 69th; no short stature; no intellectual disability, learning difficulties; developmental delay, 15m-walking, speech delay; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; upslanting palpebral fissures, thick eyebrows, synophris, fetal pads 1 1 Johan den Dunnen
00459510 Pat18 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected carrier parents/2 sibs M yes - - - - - - NDD see paper; ..., OFC <3rd; no short stature; severe-profound intellectual disability; early infancy developmental delay, minimal developmental progress, non-ambulatory, support to sit, 1y-rolled back but lost the skill, no speech; no autistic features; epilepsy, epileptic encephalopathy, 4m-onset (intractable tonic and complex partial seizures); no movement disorder; no genital anomalies; no cardiac anomalies; brachycephaly, mild synophrys, long palpebral fissures, deep-set eyes, patchy hypopigmentation on abdomen; profound hypotonia; reduced deep tendon reflexes; 4y-several-month episode choreoathetosis in context of illness which subsequently resolved; cortical blindness 1 1 Johan den Dunnen
00459511 Pat19 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., OFC >99th; no short stature; no intellectual disability; developmental delay, motor delay2m-turn over, 16m-sit, speech delay (16m-ba-ba); no autistic features; epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; anteverted nares, chubby cheeks, epicanthus; 1 1 Johan den Dunnen
00459512 Pat20 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC 28th; no short stature; mild-moderate intellectual disability; global developmental delay, 2y-walked, lLanguage delay, coordination problem, fine motor delay, tremor, agitation, ADHD; no autistic features; no epilepsy; no movement disorder; genital anomalies, unilateral cryptorchidism; no cardiac anomalies; thin nose, enophthalmia with under-orbital ring, very fine and woolly hair; agenesis bulb/left olfactory sulcus, small optic chiasm, enlargement of the pericerebral spaces, predominantly frontal 1 1 Johan den Dunnen
00459513 Pat21 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no short stature; intellectual disability; developmental delay; autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; mild dysmorphisms 1 1 Johan den Dunnen
00459514 Pat22 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no short stature; no intellectual disability; developmental delay; no autistic features; epilepsy, intractable infantile spasms; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms 1 1 Johan den Dunnen
00459515 Pat23 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no short stature; no intellectual disability; developmental delay; autistic features; epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms 1 1 Johan den Dunnen
00459516 Pat24 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., OFC 98th; no short stature; intellectual disability3(IQ49); developmental delay, language dealy, delayed motor skills; moderate autistic features, significant improvement over time; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; frontal bossings, sinophris, narrow palpebral fissures with long lashes, sunken eyes, short nasal filter, everted lips, triangular chin, prominent chin 1 1 Johan den Dunnen
00459517 Pat25 PubMed: Sabeh 2025 patient M - - - - - - - NDD see paper; ..., OFC <1st (-3.2 SD); short stature; intellectual disability; no developmental delay; autistic features; no epilepsy, febrile seizures; ADHD; pituitary hypoplasia; no movement disorder; no genital anomalies; cardiac anomalies, interatrial communication; hypertelorism, prognathous, /eft hand transverse fold; 1 1 Johan den Dunnen
00459518 Pat26 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., OFC 60th; no short stature; no intellectual disability; developmental delay; autistic features; no epilepsy; movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms 1 1 Johan den Dunnen
00459519 Pat27 PubMed: Sabeh 2025 patient F - - - - - - - NDD see paper; ..., OFC 99th; no short stature; no intellectual disability; developmental delay, fine motor slightly delayed: First words: 12-14 mo; Combining words: 2y8m (child's language is almost unintelligible to strangers). Mimics with good receptive language. Has 30-50 words but strangers would maybe recognize 15 words. Uses some sign language.; autistic features; no epilepsy; no movement disorder; no genital anomalies; cardiac anomalies; no dysmorphisms; paroxysmal dyskinesia, stereotypy or complex tic, tremor 1 1 Johan den Dunnen
00459520 Pat28 PubMed: Sabeh 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., OFC 50th; no short stature; intellectual disability (IQ66); mild global developmental delay; no autistic features; no epilepsy; movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms; ADHD, OCD, anxiety, Tourette's Syndrome 1 1 Johan den Dunnen
00459521 Pat29 PubMed: Sabeh 2025 patient F - - - - - - - NDD see paper; ..., OFC 69th; no short stature; no intellectual disability; developmental delay, speech delay, 18-24m-1st words, now 100 words, no full sentences, mild motor delays, 9m-sit, 16m- walk, parental concerns with coordination; mild-moderate autism spectrum disorder; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms 1 1 Johan den Dunnen
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