All individuals with variants in gene SUV420H1

17 entries on 1 page. Showing entries 1 - 17.
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00180374 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Seizures (HP:0001250) 1 1 IMGAG
00311393 Pat11 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - NDD birth weight normal, length normal; normal height, normal weight, OFC 0.8; developmental delay/intellectual disability, TIQ 55; gross motor delay, fine motor delay, walk-18m; speech delay, 4y-first words in sentences; no autism, no attention deficit hyperactivity disorder, Impulsivity; no hypotonia; no sleep problems; no hearing loss; normal vision; muscle weakness; normal skin; midface flattening, normal forehead, downslanting palpebral fissures, normal ears, normal nose, thin upper lip; no gastrointestinal problems; MRI brain left temporal arachnoid cyst, hypoplasia of left temporal horn, mild frontal atrophy, left ventricle larger than right ventricle; ECG normal; renal ultrasound normal; hypereflexia 1 1 Johan den Dunnen
00311412 1895-11D/Pat3 PubMed: Stessman 2017 proband M - Sweden - - - - - ? - 1 1 Johan den Dunnen
00311413 215-13198-2154 PubMed: Stessman 2017 unaffected sibling - - - - - - - - ? - 1 1 Johan den Dunnen
00311414 119530 PubMed: Stessman 2017 proband - - Belgium - - - - - ? - 1 1 Johan den Dunnen
00311415 2135-09D/Pat2 PubMed: Stessman 2017 proband F - Sweden - - - - - ? - 1 1 Johan den Dunnen
00311429 Pat8 PubMed: Faundes 2018 - F - - - - - - - NDD no perinatal history; moderate developmental delay/intellectual disability; autistic traits; no malformation/anomalies; tall stature (SD 2.91), normal weight (SD 0.9), macrocephaly (SD 4.43); craniofacial dysmorphisms; hypermobility 1 1 Johan den Dunnen
00311430 Pat9 PubMed: Faundes 2018 - M - - - - - - - NDD no perinatal history; severe developmental delay/intellectual disability; seizures,hypotonia, autistic traits; no malformation/anomalies; normal stature (SD 0.74), normal weight (SD 0.9), OFC normal (SD 1.93); craniofacial dysmorphisms 1 1 Johan den Dunnen
00311431 Pat10/DECIPHER251808 PubMed: Faundes 2018 - M - - - - - - - NDD no perinatal history; mild developmental delay/intellectual disability; seizures, enlarged right ventricl, white matter signal alterations; normal stature (SD 0.63), macrocephaly (SD 2); craniofacial dysmorphisms; strabismus, scoliosis; low-set ears, downslanted palpebral fissures, triangular face, delayed speech, delayed language development, intellectual disability 1 1 Johan den Dunnen
00311432 Pat11/DECIPHER250933 PubMed: Faundes 2018 - M - - - - - - - NDD no perinatal history; mild to moderate developmental delay/intellectual disability; cryptorchidism, pectus excavatum, overlapping 2nd and 3rd toes; normal stature (SD 1.68), normal weight (SD 0.24), OFC normal (SD 1.87); craniofacial dysmorphisms; strabismus, diabetes mellitus, hypermobility 1 1 Johan den Dunnen
00311985 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311986 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00312093 DECIPHER257438 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? autism, intellectual disability 1 1 Johan den Dunnen
00312094 DECIPHER339957 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? hearing impairment, autism, head-banging, seizures, self-injurious behaviour, severe global developmental delay, sleep disturbance, stereotypical body rocking 1 1 Johan den Dunnen
00312095 DECIPHER251970 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? patent ductus arteriosus, feeding difficulties in infancy, deeply set eye, hypertelorism, small for gestational age, cleft palate, frontal bossing, micrognathia, clinodactyly 5th finger, muscular hypotonia, aphasia, intellectual disability 1 1 Johan den Dunnen
00312096 DECIPHER280831 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00312097 DECIPHER286222 PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? abnormality foot, abnormality hand 1 1 Johan den Dunnen
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