All individuals with variants in gene NRD1

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00474059 FamAPatII1 PubMed: Pehlivan 2026 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes United States - 4m - - - NDD see paper; .... 4m-deceased; premature birth; birth weight aware gestational age; microcephaly; severe developmental delay/intellectual disability; no seizures; MRI brain normal 1 2 Johan den Dunnen
00474060 FamAPatII2 PubMed: Pehlivan 2026 sister F yes United States - 1d - - - NDD see paper; .... 1d-deceased; premature birth; intrauterine growth restriction; microcephaly; mild contractures; MRI brain normal 1 1 Johan den Dunnen
00474061 FamBPatII4 PubMed: Pehlivan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - NDD see paper; ..., no premature birth; intrauterine growth restriction; microcephaly; severe developmental delay/intellectual disability; seizures; normal ophthalmology; no musculoskeletal abnormalities; MRI brain normal 1 1 Johan den Dunnen
00474062 FamCPatII1 PubMed: Pehlivan 2026 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes - - 10d - - - NDD see paper; .... 10d-deceased; premature birth; intrauterine growth restriction; microcephaly; severe developmental delay/intellectual disability; no seizures; arthrogryposis; MRI brain lissencephaly, thick corpus callosum, vermian hypoplasia 1 2 Johan den Dunnen
00474063 FamCPatII2 PubMed: Pehlivan 2026 sister F yes - - 10d - - - NDD see paper; .... 10d-deceased; premature birth; intrauterine growth restriction; microcephaly; severe developmental delay/intellectual disability; no seizures; arthrogryposis; MRI brain lissencephaly, band heterotopia 1 1 Johan den Dunnen
00474064 FamDPatII1 PubMed: Pehlivan 2026 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes - - 6m - - - NDD see paper; .... 6m-deceased; no premature birth; intrauterine growth restriction; microcephaly; severe developmental delay/intellectual disability; seizures, concerning episodes; optic atrophy; arthrogryposis; MRI brain cortical dysplasia, severe hypoplasia cerebellum 1 2 Johan den Dunnen
00474065 FamDPatII2 PubMed: Pehlivan 2026 sister F yes - - <0d - - - NDD see paper; ..., terminated pregnancyterminated; terminated; intrauterine growth restriction; microcephaly 1 1 Johan den Dunnen
00474066 FamEPatII1 PubMed: Pehlivan 2026 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes - - - - - - NDD see paper; ..., no premature birth; birth weight aware gestational age; microcephaly; severe developmental delay/intellectual disability; seizures; normal ophthalmology; MRI brain diffuse atrophy, T2 signal changes in parietal areas 1 2 Johan den Dunnen
00474067 FamEPatII4 PubMed: Pehlivan 2026 sister F yes - - - - - - NDD see paper; ..., no premature birth; severe developmental delay/intellectual disability; no seizures 1 1 Johan den Dunnen
00474068 FamFPatII1 PubMed: Pehlivan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - NDD see paper; ..., no premature birth; birth weight aware gestational age; microcephaly; global developmental delay; seizures; nystagmus; no musculoskeletal abnormalities; MRI brain features of leukodystrophy 1 1 Johan den Dunnen
00474069 FamGPatII1 PubMed: Pehlivan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Lebanon - 1y1m - - - NDD see paper; .... 13m-deceased; no premature birth; intrauterine growth restriction; microcephaly; severe developmental delay/intellectual disability; no musculoskeletal abnormalities 1 1 Johan den Dunnen
00474070 FamHPatII2 PubMed: Pehlivan 2026 2-generation family, 3 affected (brother/sister/brother), unaffected heterozygous carrier parents F yes - - 2y3m - - - NDD see paper; .... 27m-deceased; no premature birth; intrauterine growth restriction; microcephaly; severe developmental delay/intellectual disability; seizures; optic atrophy; MRI brain diffuse atrophy 1 3 Johan den Dunnen
00474071 FamHPatII3 PubMed: Pehlivan 2026 brother M yes - - 2y - - - NDD see paper; .... 2y-deceased; no premature birth; intrauterine growth restriction; microcephaly; severe developmental delay/intellectual disability; seizures; visually inattentive; MRI brain diffuse atrophy 1 1 Johan den Dunnen
00474072 FamPatII1/5 PubMed: Yoon 2017 2-generation family, affected brother/sister, unaffected parents M - United States - - - - - NDD see paper; .... microcephaly; severe developmental delay/intellectual disability; seizures; optic atrophy; no musculoskeletal abnormalities; motor impairment; MRI brain diffuse atrophy; ataxia; hypotonia; language problem; sibling with similar presentation 16m-deceased 1 2 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.