All individuals with variants in gene NTNG2

22 entries on 1 page. Showing entries 1 - 22.
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00265339 Fam6PatIV1 PubMed: Dias 2019 - M yes Egypt - - - - - ID intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; no self-injury/hand-biting; bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms 1 2 Caroline Dias
00265340 Fam7PatII1 PubMed: Dias 2019 - F - Bangladesh - - - - - ID intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; no self-injury/hand-biting; no bruxism; hypotonia in infancy; ambulatory; MRI brain abnormalities; seizures; no microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms 1 1 Caroline Dias
00265341 Fam5PatIV1 PubMed: Dias 2019 - M yes Turkey - - - - - ID intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; -; no bruxism; hypotonia in infancy; nonambulatory; no seizures; no ophthalmologic features; gastrointestinal symptoms 1 4 Caroline Dias
00265342 Fam4PatII1 PubMed: Dias 2019 - F - Mexico - - - - - ID intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; no MRI brain abnormalities; seizures; microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms 1 2 Caroline Dias
00265343 Fam3PatIV1 PubMed: Dias 2019 - F yes Iran - - - - - ID intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; no self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; no MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms 1 2 Caroline Dias
00265344 Fam2PatIV1 PubMed: Dias 2019 - M yes Iran - - - - - ID intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; gastrointestinal symptoms 1 3 Caroline Dias
00265345 Fam1PatIV2 PubMed: Dias 2019 - M yes Iran - - - - - ID intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; no MRI brain abnormalities; no seizures; no microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms 1 2 Caroline Dias
00265404 Fam1PatIII2 PubMed: Abu-Libdeh 2019 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Israel Palestin, Arab Muslim - - - - DD see paper; …, global developmental delay, hypotonia, secondary microcephaly, autistic features 1 1 Johan den Dunnen
00265405 Fam2 PubMed: Abu-Libdeh 2019 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M yes Israel Palestin, Arab Muslim - - - - DD see paper; …, global developmental delay, hypotonia, secondary microcephaly, autistic features 1 4 Johan den Dunnen
00265406 Fam3 PubMed: Abu-Libdeh 2019 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Israel Palestin, Arab Muslim - - - - DD see paper; …, global developmental delay, hypotonia, secondary microcephaly, autistic features 1 2 Johan den Dunnen
00265407 Fam4PatIV5 PubMed: Abu-Libdeh 2019 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Israel Palestin, Arab Muslim - - - - DD see paper; …, global developmental delay, hypotonia, secondary microcephaly, autistic features 1 1 Johan den Dunnen
00269814 Fam1PatIV3 PubMed: Dias 2019 - F yes Iran - - - - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; no seizures; microcephaly; secondary microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms 1 1 Caroline Dias
00269815 Fam2PatIV2 PubMed: Dias 2019 - M yes Iran - - - - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; no seizures; microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms 1 1 Caroline Dias
00269816 Fam2PatIV3 PubMed: Dias 2019 - F yes Iran - - - - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; no seizures; microcephaly; secondary microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms 1 1 Caroline Dias
00269817 Fam3PatIV2 PubMed: Dias 2019 - F yes Iran - - - - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; no self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms 1 1 Caroline Dias
00269818 Fam4PatII2 PubMed: Dias 2019 - M - Mexico - - - - - NDD intellectual disability/global developmental delay; motor delay; language delay; no autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; seizures; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms 1 1 Caroline Dias
00269819 Fam5PatIV2 PubMed: Dias 2019 - M yes Turkey - - - - - NDD intellectual disability/global developmental delay; motor delay; no hyperactivity; -; hypotonia in infancy; no seizures; no microcephaly; dysmorphic features; no ophthalmologic features; gastrointestinal symptoms 1 1 Caroline Dias
00269820 Fam5PatIV4 PubMed: Dias 2019 - F yes Turkey - - - - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; -; bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; no seizures; microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms 1 1 Caroline Dias
00269821 Fam5PatIV5 PubMed: Dias 2019 - M yes Turkey - - - - - NDD intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; no screaming/laughing spells; -; bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms 1 1 Caroline Dias
00269822 Fam6PatIV2 PubMed: Dias 2019 - M yes Egypt - - - - - NDD intellectual disability/global developmental delay; motor delay; language delay; no autistic features/stereotypy; hyperactivity; no screaming/laughing spells; no self-injury/hand-biting; no bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms 1 1 Caroline Dias
00373659 iw045 - - M no China chinese - - - - ? HP:0001252; HP:0001250; HP:0001249; HP:0001263; HP:0002540; HP:0000750; HP:0001999 2 1 Wenjuan Qiu
00387899 M9100008 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
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