All individuals with variants in gene MACF1

4 entries on 1 page. Showing entries 1 - 4.
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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
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