All individuals with variants in gene HEPACAM

67 entries on 1 page. Showing entries 1 - 67.
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     
00000150 controls PubMed: Hollegaard 2013 association study, analysis 159 controls - - Denmark - - - - - Healthy/Control - 1 23 Mads V Hollegaard
00290283 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 41 Mohammed Faruq
00358879 HEPACAM - - - ? - - - - - - ? - 1 1 Muhammad Umair
00441953 PatEL85 PubMed: Lopez-Hernandez 2011 family, 2 affected F no Germany - - - - - MLC macrocephaly; normal early motor development; 18m-walk; normal language development; 2y-detoriation; ataxia, spasticity,; late cognitive; decline; 7y-wheelchair-bound; 11y-seizures; intellectual disability (IQ50); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs 2 2 Rogier Min
00441954 PatEL84 PubMed: Lopez-Hernandez 2011 sib F no Germany - - - - - MLC macrocephaly; mildly delayed early motor development; 24m-walk; normal language development; 5y6m-detoriation; ataxia, spasticity,; dystonia, late mild; cognitive decline; 14y-wheelchair-bound; 32y-seizures; intellectual disability (IQ75); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs; cerebellar ataxia legs 2 1 Rogier Min
00441955 PatEL125 PubMed: Lopez-Hernandez 2011 - M no Germany;Turkey - - - - - MLC ataxia; normal early motor development; 18m-walk; normal language development; 3y-detoriation; ataxia; still ambulant; no seizures; no intellectual disability; OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; no spasticity legs; cerebellar ataxia legs 1 1 Rogier Min
00441956 PatEL106 PubMed: Lopez-Hernandez 2011 - F yes Saudi Arabia - - - - - MLC macrocephaly; delayed early motor development; 24m-walk; normal language development; 7y-detoriation; loss of speech; tube feeding; 7y-wheelchair-bound; 2y-seizures; intellectual disability (IQ50); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs 1 1 Rogier Min
00441957 PatEL726 PubMed: Lopez-Hernandez 2011 - F no United States - - - - - MLC macrocephaly; normal early motor development; 14m-walk; normal language development; 4y-detoriation; ataxia, dysarthria, ataxia, dysarthria; 7y-wheelchair-bound; 3y-seizures; intellectual disability (IQ75); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs; cerebellar ataxia legs 2 1 Rogier Min
00441958 PatEL889 PubMed: Lopez-Hernandez 2011 family, 2 affected F yes Turkey - - - - - MLC macrocephaly; normal early motor development; 15m-walk; normal language development; 4y-detoriation; spasticity; still ambulant; 4y-seizures; intellectual disability (IQ70); OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; spasticity legs; no cerebellar ataxia legs 1 2 Rogier Min
00441959 PatEL890 PubMed: Lopez-Hernandez 2011 sib F yes Turkey - - - - - MLC macrocephaly; normal early motor development; 17m-walk; normal language development; 17m-detoriation; spasticity; still ambulant; no seizures; intellectual disability (IQ70); OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; spasticity legs; no cerebellar ataxia legs 1 1 Rogier Min
00441960 PatEL816 PubMed: Lopez-Hernandez 2011 - M yes Turkey - - - - - MLC febrile seizure; normal early motor development; 14m-walk; normal language development; 1y-detoriation; ataxia,; seizures; still ambulant; 1y-seizures; intellectual disability (IQ55); OFC >98perc.; dysarthria; no dysphagia; no spasticity arms; cerebellar ataxia arms; no spasticity legs; cerebellar ataxia legs 1 1 Rogier Min
00441961 PatEL774 PubMed: Lopez-Hernandez 2011 - M yes Hungary - - - - - MLC macrocephaly; mildly delayed early motor development; 26m-walk; delayed language development; 3y-detoriation; seizures,; cognitive; decline; still ambulant; 3y-seizures; OFC >98perc.; dysarthria; no dysphagia; no spasticity arms; cerebellar ataxia arms; spasticity legs; cerebellar ataxia legs 1 1 Rogier Min
00441962 PatEL785 PubMed: Lopez-Hernandez 2011 - M no Ireland - - - - - MLC macrocephaly; mildly delayed early motor development; 16m-walk; mildly delayed language development; no detoriation; still ambulant; 2y-seizures; intellectual disability (IQ60); OFC >98perc.; dysarthria; no dysphagia; no spasticity arms; cerebellar ataxia arms; no spasticity legs; cerebellar ataxia legs 4 1 Rogier Min
00441963 PatEL611 PubMed: Lopez-Hernandez 2011 - M no Portugal - - - - - MLC macrocephaly; delayed early motor development; 16m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs 1 1 Rogier Min
00441964 PatEL700 PubMed: Lopez-Hernandez 2011 - M no United Kingdom (Great Britain) - - - - - MLC macrocephaly; normal early motor development; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs 1 1 Rogier Min
00441965 PatEL158 PubMed: Lopez-Hernandez 2011 - F no Australia - - - - - MLC transient macrocephaly; delayed early motor development; 22m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; cranial nerves normal; no hypotonia arms; clumsy with arms; no hypotonia legs; clumsy with legs 2 1 Rogier Min
00441966 PatEL128 PubMed: Lopez-Hernandez 2011 - M no United States - - - - - MLC macrocephaly; delayed early motor development; 18m-walk; no speech; no epilepsy; autism; no deterioration; intellectual disability (IQ50); OFC now 60->98perc.; cranial nerves normal; no hypotonia arms; no hypotonia legs 1 1 Rogier Min
00441967 PatEL624 PubMed: Lopez-Hernandez 2011 family, 2 affected M no United Kingdom (Great Britain) - 3y6m - - - MLC 3y6m-deceased (seizures); seizures, macrocephaly; delayed early motor development; 20m-walk; delayed language development; epilepsy; no autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; cranial nerves normal; hypotonia arms; clumsy with arms; hypotonia legs; clumsy with legs 1 2 Rogier Min
00441968 PatEL625 PubMed: Lopez-Hernandez 2011 sib M no United Kingdom (Great Britain) - - - - - MLC macrocephaly; delayed early motor development; 17m-walk; delayed language development; no epilepsy; no autism; no deterioration; intellectual disability (IQ75); OFC 90perc.; cranial nerves normal; no hypotonia arms; clumsy with arms; no hypotonia legs; clumsy with legs 1 1 Rogier Min
00441969 PatEL683 PubMed: Lopez-Hernandez 2011 - F no United States - - - - - MLC macrocephaly, delay; delayed early motor development; 14m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs 1 1 Rogier Min
00441970 PatEL684 PubMed: Lopez-Hernandez 2011 family, 2 affected M no United States - - - - - MLC macrocephaly, delay; delayed early motor development; 17m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs 1 2 Rogier Min
00441971 PatEL604 PubMed: Lopez-Hernandez 2011 sib M no United States - - - - - MLC macrocephaly; delayed early motor development; 13m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; clumsy with arms; mild hypotonia legs; no motor signs legs 1 1 Rogier Min
00441972 PatEL708 PubMed: Lopez-Hernandez 2011 - F no Australia - - - - - MLC macrocephaly; normal early motor development; 14m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; clumsy with arms; no hypotonia legs; clumsy with legs 1 1 Rogier Min
00441973 PatEL847 PubMed: Lopez-Hernandez 2011 - M no Hong Kong - - - - - MLC macrocephaly; normal early motor development; 16m-walk; delayed language development; no epilepsy; no autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs 1 1 Rogier Min
00441974 PatEL686 PubMed: Lopez-Hernandez 2011 - F no Finland - - - - - MLC perinatal problems, small for gestational age, microcephaly, hypotonia; delayed early motor development; 32m-walk; delayed language development; no epilepsy; no autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; cranial nerves normal; mild hypotonia arms; clumsy with arms; mild hypotonia legs; no motor signs legs 1 1 Rogier Min
00441975 PatEL743 PubMed: Lopez-Hernandez 2011 - M yes India - - - - - MLC macrocephaly; normal early motor development; 14m-walk; delayed language development; no epilepsy; autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs 1 1 Rogier Min
00441976 PatEL775 PubMed: Lopez-Hernandez 2011 - F no Austria - - - - - MLC macrocephaly; normal early motor development; 16m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; dysarthria NL; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs 3 1 Rogier Min
00441977 PatEL903 PubMed: Lopez-Hernandez 2011 - F no Belgium - - - - - MLC transient macrocephaly; delayed early motor development; 18m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC 75perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs 1 1 Rogier Min
00441978 PatEL882 PubMed: Lopez-Hernandez 2011 - M no Netherlands - - - - - MLC macrocephaly; normal early motor development; 14m-walk; delayed language development; no epilepsy; autism; no deterioration; intellectual disability (IQ70); OFC >98perc.; cranial nerves normal; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs 1 1 Rogier Min
00441979 PatEL862 PubMed: Lopez-Hernandez 2011 - F no Croatia (Hrvatska) - - - - - MLC macrocephaly; delayed early motor development; 22m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs 1 1 Rogier Min
00441980 PatEL944 PubMed: Lopez-Hernandez 2011 - F no United States - - - - - MLC macrocephaly; normal early motor development; 14m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs 2 1 Rogier Min
00441981 Pat6 PubMed: Shi 2019 - - - China - - - - - MLC - 2 1 Rogier Min
00441982 Pat4 PubMed: Shi 2019 - - - China - - - - - MLC - 1 1 Rogier Min
00441983 Pat1 PubMed: Shi 2019 - - - China - - - - - MLC - 1 1 Rogier Min
00441984 Pat2 PubMed: Shi 2019 - - - China - - - - - MLC - 1 1 Rogier Min
00441985 Pat3 PubMed: Shi 2019 - - - China - - - - - MLC - 1 1 Rogier Min
00441986 Pat5 PubMed: Shi 2019 - - - China - - - - - MLC - 1 1 Rogier Min
00441987 Pat11 PubMed: Abdel-Salam 2016 - - - Egypt - - - - - MLC - 1 1 Rogier Min
00441988 Pat12 PubMed: Abdel-Salam 2016 - - - Egypt - - - - - MLC - 1 1 Rogier Min
00441989 Pat19 PubMed: Cao 2016 - - - China - - - - - MLC - 2 1 Rogier Min
00441990 Pat9;Pat16 PubMed: Wang 2011, PubMed: Cao 2016 - M - China - - - - - MLC - 1 1 Rogier Min
00441991 Pat17 PubMed: Cao 2016 - - - China - - - - - MLC - 1 1 Rogier Min
00441992 Pat18 PubMed: Cao 2016 - - - China - - - - - MLC - 1 1 Rogier Min
00441993 - - - - - Denmark - - - - - MLC - 1 1 Rogier Min
00441994 - - - - - Belgium - - - - - MLC - 2 1 Rogier Min
00441995 - - - - - Turkey - - - - - MLC - 1 1 Rogier Min
00441996 - - - - - United Kingdom (Great Britain) - - - - - MLC - 1 1 Rogier Min
00441997 - - - - - United Kingdom (Great Britain) - - - - - MLC - 1 1 Rogier Min
00441998 - - - - - United Kingdom (Great Britain) - - - - - MLC - 2 1 Rogier Min
00441999 - - - - - United Kingdom (Great Britain) - - - - - MLC - 1 1 Rogier Min
00442000 - - - - - Netherlands - - - - - MLC - 2 1 Rogier Min
00442001 - - - - - Netherlands - - - - - MLC - 1 1 Rogier Min
00442002 - - - - - Netherlands - - - - - MLC - 1 1 Rogier Min
00442003 - - - - - Argentina - - - - - MLC - 1 1 Rogier Min
00442004 - - - - - Australia - - - - - MLC - 1 1 Rogier Min
00442005 - - - - - Australia - - - - - MLC - 1 1 Rogier Min
00442006 - - - - - Netherlands - - - - - MLC - 1 1 Rogier Min
00442007 - - - - - Turkey - - - - - MLC - 1 1 Rogier Min
00442008 - - - - - Turkey - - - - - MLC - 1 1 Rogier Min
00442009 - - - - - Turkey - - - - - MLC - 1 1 Rogier Min
00442010 - - - - - Netherlands - - - - - MLC - 1 1 Rogier Min
00442011 - - - - - - - - - - - MLC - 1 1 Rogier Min
00442012 - - - - - Pakistan - - - - - MLC - 1 1 Rogier Min
00442013 - - - - - Malaysia - - - - - MLC - 1 1 Rogier Min
00442014 - - - - - Turkey - - - - - MLC - 1 1 Rogier Min
00442015 - - - - - Portugal - - - - - MLC - 1 1 Rogier Min
00455777 Pat17 PubMed: Salinas 2020 patient F - - - - - - - ? - 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.