All individuals with variants in gene NOVA2

13 entries on 1 page. Showing entries 1 - 13.
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00296262 Pat1 PubMed: Mattioli 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - ? see paper; ..., birth weight 3,515g, length 50cm, OFC 35cm; weight 14kg (−2.5 SD), length 100cm (−2 SD), OFC 49cm (−0.5 SD); facial dysmorphy; no congenital malformations; intellectual disability; motor developmental delay; speech delay, no words; autistic traits; stereotypic movements; seizures; spasticity/ataxic gait; frequent laughter; attraction with water; feeding difficulties; MRI brain cortical atrophy 1 1 Johan den Dunnen
00296263 Pat2 PubMed: Mattioli 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - ? see paper; ..., birth weight 3,64g, length 51cm, OFC 36cm; weight 9.6kg (−2 SD), length 81cm (−2 SD), OFC 46cm (−1 SD); facial dysmorphy; no congenital malformations; intellectual disability; motor developmental delay; speech delay; anger, autism; stereotypic movements hands; no seizures; spasticity/ataxic gait; no frequent laughter; no attraction with water; feeding difficulties; MRI brain normal 1 1 Johan den Dunnen
00296264 Pat3 PubMed: Mattioli 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - ? see paper; ..., birth weight 2,327g; weight 10.38kg (−1.8 SD), length 82.8cm (−1.5 SD.), OFC 45cm (−1.8 SD); no congenital malformations; intellectual disability; motor developmental delay; speech delay, no words; no behavioral disorders ; no stereotypic movements; hypotonia; no seizures; spasticity/ataxic gait; no frequent laughter; no attraction with water; no feeding difficulties; MRI brain Chiari malformation, type 1 1 1 Johan den Dunnen
00296265 Pat4 PubMed: Mattioli 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - ? see paper; ..., birth weight 3,459g, length 48cm, OFC ; weight 10.5kg (−2 SD), length 85cm (−2 SD), OFC 46.8cm (−1 SD); high hairline, brachycephaly, downslanting palpebral fissure, downturned mouth, bilateral ptosis; congenitallimb malformation; intellectual disability; motor developmental delay; speech delay, no words; hypersensitivity when people touch her head and hair; stereotypic movements hands; hypotonia; no seizures; no spasticity/ataxic gait; frequent laughter; no attraction with water; feeding difficulties; MRI brain corpus callosum thinning and incidental pineal gland cyst 1 1 Johan den Dunnen
00296266 Pat5 PubMed: Mattioli 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - - - - ? see paper; ..., no facial dysmorphy; no congenital malformations; intellectual disability; motor developmental delay; speech delay, no words; autism; stereotypic movements; no hypotonia; seizures; no spasticity/ataxic gait; no frequent laughter; no attraction with water; feeding difficulties; MRI brain corpus callosum thinning, global white matter volume loss, slight cerebellar volume loss; 1 1 Johan den Dunnen
00296267 Pat6 PubMed: Mattioli 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - ? see paper; ..., birth weight 3,75g, length 51cm, OFC 34cm; weight 16kg (−1 SD), length 108cm (0 SD), OFC 48cm (−2 SD); deeply set eyes, anteverted nares, deeply grooved philtrum; no congenital malformations; intellectual disability; motor developmental delay; speech delay; no behavioral disorders ; stereotypic movements (hand flapping); hypotonia; no seizures; spasticity/ataxic gait; no frequent laughter; no attraction with water; feeding difficulties; MRI brain normal 1 1 Johan den Dunnen
00382159 NO#1 - - - - - - - - - - ? - 1 1 Marcello Scala
00382160 GE#2 - - - - - - - - - - ? - 1 1 Marcello Scala
00382161 NO#3 - - - - - - - - - - ? - 1 1 Marcello Scala
00382162 NO#4 - - - - - - - - - - ? - 1 1 Marcello Scala
00382163 NO#5 - - - - - - - - - - ? - 1 1 Marcello Scala
00382164 NO#6 - - - - - - - - - - ? - 1 1 Marcello Scala
00404287 - - - - - - - - - - - NEDASB DD/ID, ASD, ADHD, stereotyped movements, ataxia, facial dysmorphism 1 1 Marcello Scala
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