All individuals with variants in gene MED23

12 entries on 1 page. Showing entries 1 - 12.
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00207885 28771251-Pat32 PubMed: Lionel 2016, PubMed: Lionel 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Canada Palestinian - - - - ? see paper; global developmental delay, microcephaly, axial hypotonia, spasticity, seizures; EEG GTS/spike and sharp-wave complexes over the bilateral parasaggital chain; MRI-brain thin corpus callosum, delayed myelination 1 1 Johan den Dunnen
00209043 21868677-Fam PubMed: Hashimoto 2011 2-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents F yes Algeria - - - - - MR;ID mild to moderate ID, no seizures, normal, normal brain MRI 1 5 Johan den Dunnen
00209044 21868677-FamPat2 PubMed: Hashimoto 2011 sister F yes Algeria - - - - - MR;ID mild to moderate ID, no seizures, normal EEG, normal brain MRI 1 1 Johan den Dunnen
00209045 25845469-FamPat1 PubMed: Trehan 2015 2-generation family, affected brothers, unaffected heterozygous carrier parents M no United States - - - - - MR;ID profound ID, spasticity, axial hypotonia, dystonia, seizures screaming spells; EEG unprovoked and photic-provoked epileptiform abnormalities; MRI-brain pontine hypoplasia 2 2 Johan den Dunnen
00209046 25845469-FamPat2 PubMed: Trehan 2015 brother M no United States - - - - - MR;ID profound ID, spasticity, axial hypotonia, choreoathetosis, seizures screaming spells; EEG disorganized slow background, bilateral frontal epileptiform abnormalities; MRI-brain pontine hypoplasia, thin corpus callosum, temporal lobe hypomyelination 2 1 Johan den Dunnen
00293981 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 24 Mohammed Faruq
00317991 PKMR85 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - ID No other clinical manifestation 1 1 Johan den Dunnen
00361489 11DG2434 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - ID not syndromic; global developmental delay, seizures, macrostomia 1 1 Johan den Dunnen
00374132 - PubMed: Lefebvre 2021 fetus F - France - - - - - ? 27w-fetus, ultrasound intrauterine growth retardation, holoprosencephaly; autopsy intrauterine growth retardation, craniostenosis, holoprosencephaly, corpus callosum agenesis, gyration defect, hemihypertrophia 2 1 Johan den Dunnen
00434641 CMC01 PubMed: Gostain 2020, PubMed: Deshwar 2023 - F - Canada - - - - - ? - 1 1 Johan den Dunnen
00447962 FamPatII1 PubMed: Chia 2018 2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs M yes Jordan - - - - - NDD see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies 1 4 Johan den Dunnen
00447963 FamPatII4 PubMed: Chia 2018 affected sister F yes Jordan - - - - - NDD see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies 1 1 Johan den Dunnen
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