Disease #01657 (GLSP (Gillespie syndrome), OMIM:206700)

Official abbreviation GLSP
Name Gillespie syndrome
OMIM ID 206700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 21
Phenotype entries for this disease 21
Associated with 1 gene PAX6
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

21 entries on 1 page. Showing entries 1 - 21.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00064779 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... ITPR1 ITPR1 17 1 Johan den Dunnen
00064780 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, affected mother/daugther F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... - - - 2 Johan den Dunnen
00064781 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064782 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064783 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064784 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064785 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064786 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064787 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064788 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064789 - PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064790 - PubMed: McEntagart 2016, Journal: McEntagart 2016, PubMed: Gerber 2016, Journal: Gerber 2016 2-generation family, 1 affected, unaffected non-carrier parents F no France - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064791 - PubMed: Gerber 2016, Journal: Gerber 2016 - F yes France Tunisian - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064792 - PubMed: Gerber 2016, Journal: Gerber 2016 - F yes Brazil - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064793 - PubMed: Gerber 2016, Journal: Gerber 2016 - F no France - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00064794 - PubMed: Gerber 2016, Journal: Gerber 2016 - F yes Guadeloupe - - - - - GLSP see paper; ... - - - 1 Johan den Dunnen
00072163 - PubMed: Gerber 2016, Journal: Gerber 2016 No family history F yes - Morocco >04y06m - - - GLSP bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), no abnormal optical coherence tomography (-HP:0030603), nystagmus (HP:0000639), ataxia (HP:0001251), postural tremor (HP:0002174), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), no peripheral neuropathy (-HP:0009830), no epileptic seizures (-HP:?), severe intellectual disability (HP:0010864), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272), thin corpus callosum (HP:0002079), ventricular dilatation (HP:0002119), hymeneal imperforation (HP:?) ITPR1 ITPR1 1 1 Jamie Zeegers
00072165 - PubMed: Gerber 2016, Journal: Gerber 2016 No family history F yes - Brazil >16y - - - GLSP bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), slurred speech (HP:0001350), general hypotonia (HP:0001290), no epileptic seizures (-HP:?), mild intellectual disability (HP:0001256), poor head control (HP:0002421), delay in motor development (HP:0001270), facial dysmorphy (HP:0001999) ITPR1 ITPR1 1 1 Jamie Zeegers
00072166 - PubMed: Gerber 2016, Journal: Gerber 2016 No family history F no - France >07y06m - - - GLSP bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), postural tremor (HP:0002174), slurred speech (HP:0001350), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), areflexia of lower limbs (HP:0002522), no epileptic seizures (-HP:?), moderate intellectual disability (HP:0002342), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272) ITPR1 ITPR1 2 1 Jamie Zeegers
00072167 - PubMed: Gerber 2016, Journal: Gerber 2016 No family history F no - France >18y - - - GLSP bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), no postural tremor (-HP:0002174), slurred speech (HP:0001350), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), no peripheral neuropathy (-HP:0009830), no epileptic seizures (-HP:?), no intellectual disability (HP:0001249), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272), short 4th metatarsal (HP:0004689) ITPR1 ITPR1 1 1 Jamie Zeegers
00072168 - PubMed: Gerber 2016, Journal: Gerber 2016 No family history F no - France >01y06m - - - GLSP bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), extrapyramidal sign (HP:0002071), no peripheral neuropathy (-HP:0009830), myoclonic seizures (HP:0002123) , poor head control (HP:0002421), no delay in motor development (-HP:0001270), cerebellar atrophy (HP:0001272), marked kyphosis (HP:0002808), left pectoral agenesis (HP:?) ITPR1 ITPR1 1 1 Jamie Zeegers
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.