All individuals with variants in gene SYNGAP1

58 entries on 1 page. Showing entries 1 - 58.
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00024277 - PubMed: Hamdan 2011 95 cases - - Canada French - - - - ID nonsyndromic intellectual disability (NSID), no dysmorphic features, birth weight/postnatal growth in normal limits, birth normal head circumference 19 50 Johan den Dunnen
00050403 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, delayed speech and language development, generalized neonatal hypotonia, strabismus, hypermetropia, myopathic facies, bilateral ptosis, downslanted palpebral fissures, tapered finger, pes planus 1 2 Johan den Dunnen
00050417 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, generalized myoclonic seizures, seizures, global developmental delay, generalized hypotonia, small feet, pes planus, exotropia, abnormality of the eye, abnormal joint morphology 1 1 Johan den Dunnen
00050433 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, delayed speech and language development, abnormal facial shape, seizures 1 1 Johan den Dunnen
00050450 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? abnormality of calvarial morphology, downslanted palpebral fissures, small chin, posteriorly rotated ears, triangular face, abnormality of toe, prominent superficial veins, sleep disturbance 1 1 Johan den Dunnen
00050483 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? ataxia, seizures 1 2 Johan den Dunnen
00050500 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, childhood-onset truncal obesity, microcephaly 1 1 Johan den Dunnen
00050704 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, generalized hypotonia, constipation, hip dislocation, thoracolumbar scoliosis, cervical platyspondyly, thoracic platyspondyly, congenital horizontal nystagmus 1 1 Johan den Dunnen
00180160 29286531-Pat12 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Epilepsy (HP:0001250), epileptic encephalopathy (HP:0200134), absence seizures (HP:0002121), global developmental delay (HP:0001263), absent speech (HP:0001344), nonprogressive ataxia (HP:0002470), (EEG with periodic lateralized epileptic discharges). 1 1 Johan den Dunnen
00183049 23033978-Trio16 PubMed: de Ligt 2012 - M - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00205120 - - - M no Canada French Canadia - - - - ID non-syndromic Intellectual disability, epilepsy 1 1 Fadi F. Hamdan
00205121 - PubMed: Hamdan 2009 - F no (Canada) South American - - - - ID moderate/severe intellectual disability non-syndromic, generalized epilepsy, MRI normal, neurological examination normal 1 1 Fadi F. Hamdan
00205122 - PubMed: Hamdan 2009 - F no (Canada) French Canadian - - - - ID moderate/severe intellectual disabilitynon-syndromic, generalized epilepsy, MRI normal, neurological examination normal 1 1 Fadi F. Hamdan
00205123 - - - M no Canada French Canadian - - - - ID Intellectual disability non-syndromic, autism 1 1 Fadi F. Hamdan
00205124 - - - F no Canada French Canadian - - - - ID moderate/severe intellectual disability non-syndromic, no epilepsy, CT-scan normal, neurological examination normal 1 1 Fadi F. Hamdan
00205125 - - - F no Canada French Canadian - - - - ID Intellectual disability non-syndromic, epilepsy 1 1 Fadi F. Hamdan
00205126 - PubMed: de Ligt 2012 - - no - - - - - - ID moderate to severe intellectual disability, no speech, non-dysmorphic, epilepsy, sleep disturbances 1 1 Fadi F. Hamdan
00205127 - PubMed: Rauch 2012 - - no - - - - - - ID severe intellectual disability 1 1 Fadi F. Hamdan
00205128 - - - - no - - - - - - ID severe intellectual disability 1 1 Fadi F. Hamdan
00205129 - - father is mosaic for the mutation; father has learning problems and depression) F no Denmark European - - - - ID intellectual disability non-syndromic, epilepsy (EMA) 1 1 Fadi F. Hamdan
00205130 MRtrio8 PubMed: Vissers 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no (Netherlands) - - - - - ID intellectual disability non-syndromic, epilepsy 1 1 Fadi F. Hamdan
00205131 - - - M no Canada European - - - - ID intellectual disability non-syndromic, autism, epilepsy 1 1 Fadi F. Hamdan
00205132 - submitted - F no (Canada) European - - - - ID intellectual disability non-syndromic, autism 1 1 Fadi F. Hamdan
00205133 - submitted - F no - - - - - - ID intellectual disability non-syndromic, ataxia, autism 1 1 Fadi F. Hamdan
00205134 - submitted - M no United States European - - - - ID intellectual disability non-syndromic, ataxia 1 1 Fadi F. Hamdan
00218411 - - - M - - - - - - - ? Language impairment (HP:0002463); Global developmental delay (HP:0001263); Motor delay (HP:0001270); Muscular hypotonia (HP:0001252) 1 1 IMGAG
00248403 - - - M - - - - - - - - HP:0100022 (Abnormality of movement); HP:0001288 (Gait disturbance); HP:0001311 (Abnormal nervous system electrophysiology); HP:0011804 (Abnormality of muscle physiology); HP:0001263 (Global developmental delay); HP:0002353 (EEG abnormality); HP:0012759 (Neurodevelopmental abnormality); HP:0001324 (Muscle weakness) 1 1 Andreas Laner
00263905 - - - F - - - - - - - - Autism (HP:0000717); Mild global developmental delay (HP:0011342); Seizures (HP:0001250) 1 1 Andreas Laner
00289417 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Failure to thrive (HP:0001508); Absence seizures (HP:0002121); Generalized seizures (HP:0002197); EEG abnormality (HP:0002353); Microcephaly (HP:0000252); Feeding difficulties in infancy (HP:0008872) 1 1 Andreas Laner
00294090 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 16 Mohammed Faruq
00296669 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Seizures (HP:0001250); Microcephaly (HP:0000252) 1 1 Andreas Laner
00296769 APN-139 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - ID moderate intellectual disability 1 1 Johan den Dunnen
00302954 Pat10 PubMed: Fieremans 2016 - F - - - - - - - ID see paper; ..., nonsyndromic mild/moderate intellectual disability, schizophrenia 1 1 Johan den Dunnen
00303042 Pat87 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset infantile 1 1 Johan den Dunnen
00303100 T15923 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - EE seizures atypical absence (3y), atonic, Aura, focal dyscognitive seizures, myoclonic jerks; EEG single spike wave, multi-focal discharges; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression 1 1 Johan den Dunnen
00303101 T2528 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - EE seizures febrile seizure (18m), absence, Aura, focal dyscognitive seizures, myoclonic jerks, non-convulsive status epilepticus, tonic-clonic; EEG single spike wave, bi-occipital ED, diffuse slowing; development prior to seizures delayed; moderate intellectual disability, regression 1 1 Johan den Dunnen
00303106 T19988 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents M - - - - - - - EE seizures unknown, focal dyscognitive seizures; EEG multi-focal discharges, diffuse slowing; Moderate intellectual disability autism spectrum disorder 1 1 Johan den Dunnen
00303107 T15924 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents M - - - - - - - EE seizures absence (6m), tonic-clonic; EEG generalised spike wave, generalised polyspike wave, multi-focal discharges; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression 1 1 Johan den Dunnen
00303108 T22387 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents F - - - - - - - EE seizures absence (10m), myoclonic jerks; EEG generalised spike wave; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression 1 1 Johan den Dunnen
00303163 USP002265 PubMed: Krepischi 2010 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - ID see paper; ... 1 1 Johan den Dunnen
00303164 patient PubMed: Zollino 2011 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - ID see paper; ... 1 1 Johan den Dunnen
00303165 patient PubMed: Klitten 2011 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - - Denmark - - - - - ID see paper; ..., 13m-onset siezures, absences associated with eye and head deviation; myoclonic absences, atypical absences, drop attacks with myoclonic jerks; epilepsy treatment resistant; severe intellectual disability, speech impairment; autistic features, anxious behavior 2 1 Johan den Dunnen
00303166 patient PubMed: Wirtzl 2013 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - Slovenia - - - - - ID see paper; ..., developmental delay, severe speech impairment, seizures,behavioral abnormalities 1 1 Johan den Dunnen
00306015 Pat46 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected parents M - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00320159 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Aggressive behavior (HP:0000718); Diastema (HP:0000699) 1 1 IMGAG
00361500 13DG0178 PubMed: Anazi 2017 simplex case M no Saudi Arabia - - - - - ID not syndromic; global developmental delay, seizures and autistic behaviour 1 1 Johan den Dunnen
00374520 S-2171 PubMed: Ganapathy 2019 - - - India - - - - - ? Manifested global developmental delay with autistic features, bruxism, depressed nasal bridge, bulbous nose, self harming at night and excessive cry. MRI was normal and EEG was suggestive of multifocal epilepsy. 1 1 Johan den Dunnen
00374521 S-1331 PubMed: Ganapathy 2019 - - - India - - - - - ? Myoclonus seizures, autistic symptoms and global developmental delay 1 1 Johan den Dunnen
00391875 128P - - F no Spain - - - - - MRD5 - 1 1 Alejandro Brea-Fernández
00412360 Fam4 PubMed: Halvardson 2016 - M - Sweden - - - - - NDD severe intellectual disability, autism, atypical absence seizures, atonic seizures, myoclonic absences, generalizied tonic clonic seizures , no speech, ataxic gait, almond shaped eys, full lips, narrow palate 1 1 Johan den Dunnen
00427802 Pat244 PubMed: Zhou 2018 family, 1 affected, unaffected carrier mother M - China - - - - - epilepsy intellectual disability; tonic seizure, spasms, frequency 3-4/d; EEG burst of fast activity, multifocal discharges; MRI brain nonspecific; resistant to antiepileptic drugs 1 1 Johan den Dunnen
00438377 Pat96 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0000750 delayed speech and language development; HP:0001249 intellectual disability; HP:0011344 severe global developmental delay; HP:0002353 eeg abnormality; HP:0003739 myoclonic spasms; HP:0002333 motor deterioration; HP:0001510 growth delay; HP:0008315 decreased plasma free carnitine; HP:0001410 decreased liver function 1 1 Johan den Dunnen
00438708 HSJ0766 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00440401 PED3490.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00452792 - - - M - - (not applicable) white - - - - ID HP:0000717, HP:0001249, HP:0001260, HP:00002167, HP:0000768 1 1 Marketa Wayhelova
00457909 - - - M - - (not applicable) white - - - - NDD HP:0001249, HP:0000750, HP:0000729 1 1 Marketa Wayhelova
00458262 - - - F - - (not applicable) white - - - - ID HP:0001249 1 1 Marketa Wayhelova
00465799 331349 - - M no Germany - - - - - MRD5 Neurodevelopmental delay, Esophageal atresia, Short stature, Decreased body weight, Very preterm birth 1 1 Andreas Laner
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