All individuals with variants in gene METTL5

8 entries on 1 page. Showing entries 1 - 8.
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     
00307954 11DG1842 PubMed: Anazi 2017 simplex case F - - - - - - - ID see paper; ..., Intellectual disability, Oligodactyly, Aplasia cutis congenita, Posteriorly rotated ears, Prominent nose, Micrognathia 1 1 Johan den Dunnen
00318016 FamPKMR43PatII1 PubMed: Riazuddin 2017, PubMed: Richard 2019 2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F yes Pakistan Pathan - - - - ID see paper; ..., weight 32 kg (-4.9 SD), height 152 cm (-1.6 SD), OFC 51 cm (-3.1 SD); no congenital anomalies; severe intellectual disability (HP:0010864); speech delay; microcephaly; no hypotonia; no epilepsy; no spasticity; attention-deficit/hyperactivity disorder; no eye abnormalities; no nose abnormalities; normal mouth; large ears; no hearing loss; no vestibular deficit 1 5 Johan den Dunnen
00386944 FamPKMR43PatII2 PubMed: Riazuddin 2017, PubMed: Richard 2019 brother M yes Pakistan Pathan - - - - ID see paper; ..., weight 50 kg (-0.1 SD), height 157 cm (-0.8 SD), OFC 48 cm (-4.2 SD); no congenital anomalies; severe intellectual disability (HP:0010864); speech delay; microcephaly; mild hypotonia; no epilepsy; no spasticity; attention-deficit/hyperactivity disorder, aggressive; no eye abnormalities; broad nasal base, over hanging nasal tip; normal mouth; normal ear shape; no hearing loss; no vestibular deficit 1 1 Johan den Dunnen
00386945 FamPKMR43PatII3 PubMed: Riazuddin 2017, PubMed: Richard 2019 brother M yes Pakistan Pathan - - - - ID see paper; ..., weight 89 kg (1.9 SD), height 157 cm (-2.7 SD), OFC 51 cm (-2.8 SD); no congenital anomalies; severe intellectual disability (HP:0010864); speech delay; microcephaly; no hypotonia; no epilepsy; no spasticity; attention-deficit/hyperactivity disorder, aggressive; no eye abnormalities; over hanging nasal tip; normal mouth shape, dysplastic teeth; large ears; no hearing loss; no vestibular deficit 1 1 Johan den Dunnen
00386946 FamF47949PatIII3 PubMed: Richard 2019 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Germany Yemenite - - - - ID see paper; ..., weight 16 kg (-3.5 SD), height 114 cm (-2 SD), OFC 46 cm (-5 SD); fetal tachycardia, hydrops fetalis; severe intellectual disability (HP:0010864); no speech; microcephaly; no hypotonia; no epilepsy; spasticity; hand biting, autistic; no eye abnormalities; large nose with broad tip; normal mouth; low-set and posteriorly rotated ears; no hearing loss; no vestibular deficit 1 2 Johan den Dunnen
00386947 FamF47949PatIII2 PubMed: Richard 2019 brother M yes Germany Yemenite - - - - ID see paper; ..., weight 26 kg (-2.8 SD), height 135 cm (-2.3 SD), OFC 48 cm (-4.7 SD); atrial septal defect type II, pulmonic stenosis; moderate/severe intellectual disability; speech delay , 4–5 word sentences; microcephaly; no hypotonia; no epilepsy; spasticity; hand biting, autistic; no eye abnormalities; large nose with broad tip; normal mouth; low-set and posteriorly rotated ears; no hearing loss; no vestibular deficit 1 1 Johan den Dunnen
00386948 M8600616PatIII3 PubMed: Hu 2019 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Iran - - - - - ID see paper; ..., height 133 cm (25%ile), OFC 46 cm (-7 SD); severe intellectual disability (HP:0010864); speech delay, slurred speech; microcephaly; no epilepsy; short temper, aggressive; strabismus; narrow nasal base, broad nasal ridge; long philtrum and thin upper lip; large ears; unbalanced gait 1 2 Johan den Dunnen
00386949 M8600616PatIII5 PubMed: Hu 2019 sister F yes Iran - - - - - ID see paper; ..., height 95 cm (3%ile), OFC 44 cm(-8 SD); severe intellectual disability (HP:0010864); microcephaly; seizure; short temper, aggressive; strabismus; narrow nasal base, broad nasal ridge; long philtrum and thin upper lip; normal ear shape; no vestibular deficit 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) 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.