All individuals with variants in gene MACF1

16 entries on 1 page. Showing entries 1 - 16.
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00443871 FamAPatIII1 PubMed: Chatron 2020 3-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes Algeria - - - - - DEE see paper; ..., <6m-epileptic spasms; 3y-generalized tonic-clonic seizures; EEG at onset hypsarrhythmic; drug-resistant epilepsy; axial hypotonia, spasticity, scoliosis; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; joint contractures; no dysmorphic facial features; MRI brain 2y6m-normal 2 2 Johan den Dunnen
00443872 FamAPatIII2 PubMed: Chatron 2020 sister F yes Algeria - - - - - DEE see paper; ..., 1d--epileptic spasms; 3m-seizure-free; EEG at onset suppression-burst pattern; axial hypotonia, increased muscle tonus limbs, abnormal eye movements; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; joint contractures; no dysmorphic facial features 2 1 Johan den Dunnen
00449874 - - - M - - - - - - - SCZD Schizophrenia, Global developmental delay, Attention deficit hyperactivity disorder, Autism, 1 1 Camille Verebi
00459421 Fam5PatII1 PubMed: Bayam 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Brazil Minas Gerais - - - - NDD see paper; ..., gestational diabetes 3rd trimester (dietary treatment), normal fetal movements, 4m-gestational ultrassound ventriculomegaly; birth 39w, C-section, weight 3.02kg, length 50.8cm, OFC 33cm; weight 14.2kg (+0.54 SD), length 94cm (+0.85 SD), OFC 46.5cm (-1.73 SD); global developmental delay, only sustains neck; no sit, no walk; no speech, only sounds; prenatal ventriculomegaly; MRI brain head circumference, reduced white matter, hypoplastic corpus callosum and reduced brainstem volume, ventriculomegaly without hydrocephalus, Inspecific hypersignal areas white matter; EEG hypsarrhythmia, disorganized baseline activity, frequent multifocal epileptiform paroxysms with variable morphology; coordination poor; axial hypotonia, apendicular hypertonia; no hyperreflexia; no ataxia; global developmental delay; epileptic crisis initially diagnosed at 3/4m of age, refractory seizures; suspicion of dystonia; significant feeding difficulty first few months of life, 5m-fundoplication surgery and gastrostomy with adequate weight gain since; normal cardiologic evaluation; significant strabismus, normal gastrourogenital tract, normal ocular fundoscopy, normal hearing screening tests 1 1 Johan den Dunnen
00467475 LR14-088 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - India white - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum moderate vermis hypoplasia, moderate hemisphere hypoplasia, foliar dysplasia; birth OFC 36 cm (SD+1.1); weight 13.7 kg (SD−1.7), height 105 cm (SD−0.5), OFC 50.5 cm (SD0); global developmental delay; hypotonia; no spasticity; 1y-sit; 3y-walk; speech >40 words; severe intellectual disability; 5m-onset seizures, seizures, infantile spasm; hand flapping; cortical visual impairment, left optic-nerve hypoplasia; abnormal eye movements; left exotropia; no feeding abnormality; ventriculoseptal defect 1 1 Johan den Dunnen
00467476 LR17-434 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands white - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 28 kg (SD+1), height 128 cm (SD0), OFC 53 cm (SD+0.7); global developmental delay; hypotonia; no spasticity; not sitting; not walking; speech 10 syllables; severe intellectual disability; 6m-onset seizures, seizures, infantile spasm, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; mixed dyskinesia; no vision abnormalities; abnormal eye movements; exotropia; impaired feeding (gastrostomy tube) 1 1 Johan den Dunnen
00467477 LR16-306 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States white - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thick lissencephaly cortical thickness (10-15 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, absent base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 13.5 kg (SD+1.7), height 103 cm (SD−1), OFC 45.5 cm (SD−1); global developmental delay; hypotonia; no spasticity; not sitting; not walking; no speech; severe intellectual disability; 3m-onset seizures, SE, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; cortical visual impairment; normal eye movements; impaired feeding (gastrostomy tube) 1 1 Johan den Dunnen
00467478 LR17-450 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Poland white - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thick lissencephaly cortical thickness (10-15 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem thick tectume, severe narrowing of pons, wide pons/medulla, absent base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; birth OFC 31 cm (SD−1); weight 14 kg (SD−3), height 116 cm (SD−1), OFC 47 cm (SD+0.5); global developmental delay; hypotonia; no spasticity; not sitting; not walking; no speech; severe intellectual disability; 3m-onset seizures, myoclonic seizure; no dyskinesia; no vision abnormalities; normal eye movements; no strabismus; no feeding abnormality 1 1 Johan den Dunnen
00467479 LR04-067a1 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States white;Hispanic - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient equal to anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; borderline thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; 32.5 cm (SD−1.5); weight 35.2 kg (SD−3), height 150 cm (SD−2), OFC 49.5 cm (SD−4); global developmental delay; hypotonia; spasticity; 1y-sit; 5y-walk; speech 3 words; severe intellectual disability; 7m-onset seizures, focal seizure with impaired awareness, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; mixed dyskinesia; no vision abnormalities; nystagmus horizontal 1 1 Johan den Dunnen
00467480 LR04-067a2 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States white;Hispanic - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient equal to anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; borderline thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 29.0 kg (SD−4), height 137 cm (SD−4), OFC 47.7 cm (SD−5); global developmental delay; hypotonia; spasticity; not sitting; not walking; speech 3 words; severe intellectual disability; 5m-onset seizures, focal seizure with impaired awareness, focal tonic-clonic seizure, generalized tonic-clonic seizure; mixed dyskinesia; no vision abnormalities; esotropia 1 1 Johan den Dunnen
00467481 LR18-077 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Syria white - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin mild diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum moderate vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 22 kg (SD−0.4), height 50 cm (SD−2); global developmental delay; hypotonia; spasticity (legs); 1y6m-sit; 7y-walks few steps; no speech; severe intellectual disability; 6m-onset seizures, probable generalized tonic-clonic seizure; mixed dyskinesia; eye movements slow tracking; no feeding abnormality; dysmorphic (hypertelorism, low nasal bridge, epicanthal folds, low-set ears) 1 1 Johan den Dunnen
00467482 LR18-070 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Japan Asia - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), subtle hippocampal dysplasia, thin white matter; thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum no vermis hypoplasia, no hemisphere hypoplasia, foliar dysplasia; birth OFC 33.5 cm (SD+0.4); weight 10.0 kg (SD−1.6), height 82.5 cm (SD−1.6), OFC 47.2 cm (SD−0.4); global developmental delay; no hypotonia; no spasticity; 1y-sit; 3y-walk with support; no speech; severe intellectual disability; 5y-onset seizures, myoclonic seizure, generalized tonic-clonic seizure; hand waving; eye movements abduction limited (ocular abduction limited to half normal excursion); no feeding abnormality 1 1 Johan den Dunnen
00467483 LR16-412 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Philippines white;Asia - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), subtle hippocampal dysplasia, thin white matter; normal anterior commissure, thin mild diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, normal pons, subtle wide pons/medulla, normal base of pons, no pontine hypoplasia; cerebellum normal vermis, normal hemisphere, no foliar dysplasia; weight 20.4 kg (SD+0.7), height 107.9 cm (SD−0.1), OFC 51.3 cm (SD0); mild developmental delay; no hypotonia; no spasticity; 7m-sit; 1y6m-walk; 1y6m-speech; severe intellectual disability; 4y3m-onset seizures, focal seizure with impaired awareness, generalized tonic-clonic seizure; no dyskinesia; no vision abnormalities; normal eye movements; no strabismus; no feeding abnormality 1 1 Johan den Dunnen
00467484 - PubMed: Kenny 2014 - - - Ireland - - - - - NDD seizures 1 1 Johan den Dunnen
00467485 - PubMed: Wang 2015 2-generation family, 1 affected, unaffected non-carrier parents - - China - - - - - SCZD schizophrenia 1 1 Johan den Dunnen
00467486 - PubMed: Xu 2012 - - - United States - - - - - SCZD schizophrenia 1 1 Johan den Dunnen
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