All individuals with variants in gene AP4B1

18 entries on 1 page. Showing entries 1 - 18.
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     
00011649 - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carreir parents F yes Israel Iaraeli;Arab - - - - ID sever ID; normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, no drooling, wheelchair bound, no foot deformity, head circumference -2.5SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, overweight; 2.5y walk independently 1 1 Johan den Dunnen
00011650 - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carrier parents F yes Israel Iaraeli;Arab - - - - ID severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, no Babinski sign, spasticity, no drooling, ambulant, no foot deformity, head circumference -2.5SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, overweight; 2.5y walk independently 1 1 Johan den Dunnen
00011651 - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carrier parents M yes Israel Iaraeli;Arab - - - - ID severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, wheelchair bound, no foot deformity, head circumference -3SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, normal weight; 2.5y walk independently 1 1 Johan den Dunnen
00011663 - PubMed: Bauer 2012 2-generation family, affected brother and sister, unaffected carrier parents - yes Israel Arab - - - - SPG hereditary spastic paraplegia, type 47 (SPG-47); see article 1 2 Johan den Dunnen
00034568 - PubMed: Tüysüz 2014, Journal: Tüysüz 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F ? Turkey - - - - - CP see paper; tetraplegic cerebral palsy, intellectual disability, ... 1 2 Johan den Dunnen
00150140 26539891-FamBAB4903 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, CCH 1 1 Johan den Dunnen
00150167 26539891-FamBAB4474 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? Hypoplastic bulbus, pons, cerebellum 1 1 Johan den Dunnen
00283339 FamM331 PubMed: Najmabadi 2011 family, 5 affected - yes Iran - - - - - PBD moderate intellectual disability retinitis pigmentosa, hearing loss, ataxia 1 5 Global Variome, with Curator vacancy
00302962 Pat7 PubMed: Helbig 2016 - - - United States - - - - - seizures Fever related seizures; age onset childhood 1 1 Johan den Dunnen
00302964 Pat9 PubMed: Helbig 2016 - - - United States - - - - - seizures Generalized epilepsy with myoclonic seizures; age onset childhood 1 1 Johan den Dunnen
00309884 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252) 2 1 Andreas Laner
00374657 S-4755 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00384652 - - - M likely Spain white - - - - SPG47;CPSQ5 - 1 1 Clara Gómez
00387829 M8800045 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00387866 M8900295 PubMed: Hu 2019 family, 3 affected individuals, double cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 3 Johan den Dunnen
00387867 M8900303 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00403881 TF104 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - NDD - 1 1 Johan den Dunnen
00442603 RDFA06 - two patients - yes Pakistan - - - - - SPG47;CPSQ5 - 1 2 Sadaf Naz
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.