All individuals with variants in gene SLC4A10

21 entries on 1 page. Showing entries 1 - 21.
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00458533 Fam1PatIII1 PubMed: Fasham 2023 3-generation family, 2 affected brothers, unaffected heterozygous carrier first-cousin parents M yes United Kingdom (Great Britain) Palestine - - - - NDD see paper; ..., OFC 50.5cm (SD-2.3); severe intellectual disability; delayed gross motor development, >2y-walk; no speech (non-verbal); no hearing loss; anxiety; no stereotypies; hyperactivity; seizures; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum 1 2 Johan den Dunnen
00458534 Fam1PatIII2 PubMed: Fasham 2023 brother M yes United Kingdom (Great Britain) Palestine - - - - NDD see paper; ..., OFC 48.5cm (SD-3.4); severe intellectual disability; delayed gross motor development, 5y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum; inverted nipples 1 1 Johan den Dunnen
00458535 Fam2PatII1 PubMed: Fasham 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Austria - - - - - NDD see paper; ..., weight 10.7kg (SD-4.9), height 101.5cm (SD-1.3), 50cm (SD-1.7); feeding difficulties; severe intellectual disability; delayed gross motor development, rolling; speech babbles; no hearing loss; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix, normal septum pellucidum; coxa vara anteverta, developmental dysplasia hip 1 1 Johan den Dunnen
00458536 Fam3PatII2 PubMed: Fasham 2023 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Saudi Arabia - - - - - NDD see paper; ..., birth-OFC normal; weight 19.8kg (SD-1.8), height 125cm (SD-0.4), 47.5cm (SD-4.5); severe intellectual disability; delayed gross motor development, crawling; speech babbles; anxiety; stereotypies; no hyperactivity; seizures, generalized tonic-clonic seizures; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes, clonus; ankle contractures 1 2 Johan den Dunnen
00458537 Fam3PatII3 PubMed: Fasham 2023 sister F - Saudi Arabia - - - - - NDD see paper; ..., weight 10.9kg (SD-3.5), height 100cm (SD-0.4), 44.5cm (SD-5.5); birth feeding difficulties; severe intellectual disability; delayed gross motor development, not rolling; speech sounds; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum; craniosynostosis, ankle contractures 1 1 Johan den Dunnen
00458538 Fam4PatIII2 PubMed: Fasham 2023 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrie parents M yes Egypt - - - - - NDD see paper; ..., birth-OFC 34.2cm (SD-0.8); weight 23kg (SD-2.3), height 123cm (SD-2.5), 45.5cm (SD-5.6); no feeding difficulties; severe intellectual disability; delayed gross motor development, 6y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; EEG abnormal; reduced central tone; decreased peripheral tone; normal tendon reflexes 1 3 Johan den Dunnen
00458539 Fam4PatIII3 PubMed: Fasham 2023 brother M yes Egypt - - - - - NDD see paper; ..., birth-OFC 35cm (SD-0.2); weight 16kg (SD-2.5), height 104cm (SD-2.7), 46.6cm (SD-4.3); no feeding difficulties; severe intellectual disability; delayed gross motor development, 6y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes 1 1 Johan den Dunnen
00458540 Fam4PatIII5 PubMed: Fasham 2023 female double first cousin F yes Egypt - - - - - NDD see paper; ..., birth-OFC 33cm (SD-1.3); weight 45kg (SD-1.8), height 150cm (SD-2.2), 48cm (SD-5.4); feeding difficulties; severe intellectual disability; delayed gross motor development, 7y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes 1 1 Johan den Dunnen
00458541 Fam5PatII1 PubMed: Fasham 2023 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Turkey - - - - - NDD see paper; ..., weight 30.4kg (SD-0.9), height 136cm (SD-1.2), 51.6cm (SD-1.9); feeding difficulties; moderate intellectual disability; delayed gross motor development, 2y-walk; dysarthria; no hearing loss; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes; MRI brain slit lateral ventricles, no dysmorphic corpus callosum, no distorted configuration fornix/septum pellucidum; accessory nipple 2 2 Johan den Dunnen
00458542 Fam5PatII2 PubMed: Fasham 2023 brother M yes Turkey - - - - - NDD see paper; ..., birth-OFC 50.5cm (SD−2.3); weight 17kg (SD-1.7), height 111cm (SD-1.0), 46.7cm (SD-4.2); feeding difficulties; severe intellectual disability; delayed gross motor development, 3y-walk; no speech (non-verbal); no hearing loss; anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum 2 1 Johan den Dunnen
00458549 Fam1Pat1 PubMed: Maroofian 2024 2-generation family, affected sister/brother, unaffected heterozygous carrier parents M yes Iraq - - - - - NDD see paper; ..., pregnancy unremarkable, birth at term, weight 3.8kg (96th), microcephalicy; height 136.5 (98th), weight 23.7kg (75th), 0FC 48.5cm (-1.9); no failure to thrive; mild global developmental delay, mild intellectual disability; no developmental regression; 1.6y-walk; delayed speech, many words, speaks in simple sentences, understands simple commands; normal vision, no hearing loss; dysmorphic features, synophrys, prominent ears; central tone mild hypotonia; peripheral tone no hypotonia; normal deep tendon reflexes; no seizures; disconjugate gaze; autistic features, attentional problems; MRI 8y-dysplastic short corpus callosum, small septum pellucidum whit short fornices, large interthalamic mass, small "slit-like" frontal horns, bilateral incomplete hippocampal rotation, bilateral multiple small nodules gray matter heterotopia extending from the occipital horns to overlying cortex 1 2 Johan den Dunnen
00458550 Fam1Pat2 PubMed: Maroofian 2024 brother F yes Iraq - - - - - NDD see paper; ..., pregnancy unremarkable, birth at term, weight 3.5kg (83th%), microcephaly; height 129.6cm (75th), weight 44kg (98th), OFC 49.5cm (-1.3); no failure to thrive; moderate global developmental delay, moderate intellectual disability; no developmental regression; 2.7y-walk; delayed speech, individual words, no sentences; strabismus, no hearing loss; dysmorphic features, synophrys, prominent lashes, low anterior hair line, retrognathia, left-sided preauricular tag; central tone hypotonia; peripheral tone hypotonia; normal deep tendon reflexes; no seizures; disconjugate gaze; autism, attentional and behavioral difficulties; MRI 9y-dysplastic short corpus callosum, small septum pellucidum whit short fornices, small "slit-like" frontal horns, bilateral incomplete hippocampal rotation, bilateral multiple small nodules of gray matter heterotopia extending from the occipital horns to overlying cortex 1 1 Johan den Dunnen
00458551 Fam2Pat3 PubMed: Maroofian 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States Europe - - - - NDD see paper; ..., buchal cord, respiratory distress; birth at term, birth-36w, weight 2.2kg (Z=2.24), OFC 30cm (Z=-3.42, microcephaly); OFC 30cm (below 3rd); failure to thrive; severe global developmental delay, severe intellectual disability; developmental regression; crawl, not walking; delayed speech, babbling; normal vision, no hearing loss; dysmorphic features, long eyelashes, large ears, broad nasal bridge, upturned nares; central tone hypotonia; reduced peripheral tone; normal to diminished deep tendon reflexes; seizures, epileptic encephalopathy; dysphagia requiring G-tube placement, constipation; anxiety; MRI 1.5y/4y-dysplastic short corpus callosum, small septum pellucidum whit short fornices, small "slit-like" frontal horns, bilateral incomplete hippocampal rotation, bilateral multiple small nodules of gray matter heterotopia extending from the occipital horns to overlying cortex; EEG subclinical seizure activity, hypsarrhythmia pattern 2 1 Johan den Dunnen
00458552 Fam3Pat4 PubMed: Maroofian 2024 2-generation family, sister/3 brothers affected, unaffected heterozygous carrier parents F yes Iran - - - - - NDD see paper; ..., pregnancy unremarkable, birth-39w, weight 3.5kg (83th); height 170cm (85th), weight 55kg (36th), OFC 56cm (94th); severe global developmental delay, profound intellectual disability (IQ<20); no developmental regression; 2y-walk, self-feeding, can not hold light things; wide base gait; delayed speech, babbling; normal vision, no hearing loss; dysmorphic features, Marfanoid elongated face, disordered teeth, low subcutaneous fat, scarring skin; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; happy demeanor 1 3 Johan den Dunnen
00458553 Fam3Pat5 PubMed: Maroofian 2024 brother M yes Iran - - - - - NDD see paper; ..., pregnancy unremarkable, birth-39w, weight 4.95kg (99th); height 162cm (12th), weight 60kg (52nd), OFC 57cm (91st); severe global developmental delay, profound intellectual disability (IQ<20); no developmental regression; 10y-walk, self-feeding, can not hold light things; delayed speech, babbling; vision disturbed at night, no hearing loss; dysmorphic features, Marfanoid and elongated face, disordered teeth, low subcutaneous fat, scarring skin; central tone mild hypotonia; peripheral tone moderate hypotonia; no muscle atrophy; normal plantar response; no seizures; mute; MRI 1.6y-bilateral incomplete hippocampal rotation 1 1 Johan den Dunnen
00458554 Fam3Pat6 PubMed: Maroofian 2024 brother M yes Iran - - - - - NDD see paper; ..., pregnancy unremarkable, birth-39w, weight 3.5kg (80th); height 182cm (78th), weight 62kg (20th), OFC 55cm (below 3rd); severe global developmental delay, profound intellectual disability (IQ<20); no developmental regression; 2y-walk, self-feeding, can not hold light things; wide base gait; delayed speech, babbling; normal vision, no hearing loss; Marfanoid and elongated face, disordered teeth, low subcutaneous fat, scarring skin; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; mute 1 1 Johan den Dunnen
00458555 Fam4Pat7 PubMed: Maroofian 2024 2-generation family, 2affected sisters unaffected heterozygous carrier parents F yes Iran Balooch - - - - NDD see paper; ..., pregnancy unremarkable, birth-34w, weight 2kg (26th), OFC 33cm (25th); height 118cm (50th), weight 21kg (9-25th), OFC 47.5cm (below 10th); mild-moderate global developmental delay, mild-moderate intellectual disability; no developmental regression; 2y-walk; current normal gross motor skills; ataxia; mild speech delay, 1.5y-first speech; dysarthria; normal vision, no hearing loss; no dysmorphic features; mild cerebellar ataxia; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; no behavioral characteristics; CT scan small right frontal horn; MR NAD 1 2 Johan den Dunnen
00458556 Fam4Pat8 PubMed: Maroofian 2024 sister F yes Iran Balooch - - - - NDD see paper; ..., pregnancy unremarkable, birth-40w, weight 2.26kg (4th), OFC 34cm (50th); height 97cm (2nd), weight 15kg (2nd), OFC 47cm (-2, below 15th); mild-moderate global developmental delay, mild-moderate intellectual disability; no developmental regression; 2y-walk; current normal gross motor skills; ataxia; 1.5y-first speech, 3 words sentences; normal vision, no hearing loss; dysarthria; no dysmorphic features; mild cerebellar ataxia; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; sudden attack unawareness for 24h, in PICU 48h; no Bruxism, tempered tantrum, aggressiveness, no stereotypy; MRI 1m/1y5m-bilateral incomplete hippocampal rotation, thin corpus callosum, slightly delayed myelination, choroidal plexus cysts left lateral ventricle/right temporal horn 1 1 Johan den Dunnen
00458557 Fam5Pat9 PubMed: Maroofian 2024 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Iran Balooch - - - - NDD see paper; ..., birth at term, weight 2.5kg (below the 5th), OFC 34cm (50th); height 48cm, weight 9kg (0.1th), OFC 44cm (0.1th); failure to thrive; moderate global developmental delay, moderate intellectual disability; no developmental regression; roll, not walking; delayed speech, babbling; normal vision, no hearing loss; dysmorphic features, prognathism, deep set eyes, high arch palate; central tone hypotonia; peripheral tone mild-moderate hypotonia; brisk deep tendon reflexes; equivocal plantar response; no seizures; bruxism, limb dystonic athetosis; selective diet, only cereals; poor communication, poor eye contact, agitation 1 2 Johan den Dunnen
00458558 Fam5Pat10 PubMed: Maroofian 2024 brother M yes Iran Balooch - - - - NDD see paper; ..., birth at term, weight 2.7kg (17th), OFC 34cm (50th); height 49cm, weight 13kg (below 0.1th), OFC 44cm (0.1th); failure to thrive; moderate global developmental delay, moderate intellectual disability; no developmental regression; crawl, not walking; delayed speech, 5 words; normal vision, no hearing loss; dysarthria; dysmorphic features, prognathism, deep set eyes, high arch palate; central tone hypotonia; peripheral tone mild-moderate hypotonia; brisk deep tendon reflexes; equivocal plantar response; no seizures; bruxism, temper (tantrum), axial dystonia; stereotypy, agitation, tempered tantrum, poor communication, no eye contact; MRI 7m-bilateral incomplete hippocampal rotation, white matter volume reduction with posterior lateral ventricles dilatation but small frontal horns (especially left), thin corpus callosum, slightly delayed myelination, left cerebellar arachnoid cyst, enlarged fronto-temporal cerebrospinal fluid spaces 1 1 Johan den Dunnen
00458559 Fam6Pat11 PubMed: Maroofian 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - NDD see paper; ..., birth at term; severe global developmental delay, severe intellectual disability; delayed speech; central tone hypotonia; peripheral tone hypotonia; seizures; choreiform movements; MRI bilateral incomplete hippocampal rotation, thinningcorpus callosum 2 1 Johan den Dunnen
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