All individuals with variants in gene MBD5

19 entries on 1 page. Showing entries 1 - 19.
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00080969 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - MRD1 Mental retardation, autosomal dominant 1 (OMIM:156200) 1 1 Daniel Trujillano
00147129 30631761-Pat46_S3 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, intellectual disability, epilepsy, autism spectrum disorder 1 1 Joonhong Park
00266386 Fam1PatVI5 PubMed: Milani 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes United States - - - - - ? born at term; OFC birth 32.5 (SD-1.8); OFC 44.5 (SD-5.0); narrow forehead, upslanting palpebral fissures, thick eyebrows, bulbous nose, prominent ear, smooth philtrum, thin upper lip, widened and separated teeth; truncal hypotonia; no spasticity; myopia; normal auditory; delayed motor skills; delayed language; autistic features; 6y9m-onset generalized seizures; 6y6m-EEG continuous slow background activity and frequent multifocal epileptiform discharges; 21m-MRI brain pachygyria, thin corpus callosum, mild cerebellar volume loss 1 2 Johan den Dunnen
00292252 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00292253 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292254 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00301085 - - - F - Germany - - - - - ? Focal myoclonic seizures (HP:0011166); Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638) 1 1 Andreas Laner
00302780 79.65 PubMed: Hamdan 2015 - M - Canada - - - - - ID severe intellectual disability; no speech; not walking; epilepsy; no autistic features; no microcephaly; no macrocephaly; MRI brain myelination delay, thin corpus callosum, mild ventriculomegaly; hypotonic; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; mild sensorineural hearling loss on left 1 1 Johan den Dunnen
00303102 T1898 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - EE seizures tonic-clonic (6m), absence, focal dyscognitive seizures, focal, tonic; EEG generalised polyspike wave, multi-focal discharges, diffuse slowing; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, no regression 1 1 Johan den Dunnen
00308032 Pat11 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - ? severe global developmental delay, microcephaly, autism, stereotypes 1 1 Johan den Dunnen
00362732 178965 - - F - Germany - - - - - MRD1 Seizure, Encephalopathy 1 1 Andreas Laner
00374780 S-1788 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374781 S-4058 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00438303 Pat21 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0001281 tetany 1 1 Johan den Dunnen
00451703 - - - F - - (not applicable) white - - - - NDD HP:0001344, HP:0007367, HP:0100021, HP:0010864, HP:0000252, HP:0001250, HP:0001257 1 1 Marketa Wayhelova
00453017 KS78 PubMed: Kleefstra 2012 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - KLEFS intellectual disability; childhood hypotonia; no microcephaly; short stature; no overweight; brachycephaly; midface hypoplasia; coarse facies; hypertelorism; synophrys; arched eyebrows; short nose; anteverted nostrils; no macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; no pointed chin; no dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); seizures 1 1 Johan den Dunnen
00453475 OGM_P40 PubMed: Xiao 2024 - M no China Chinese - - - - neurodegeneration The patient is a developmentally delayed male aged 6 years and 4 months. He is the second child born at full term with a birth weight of 3.2 kg (50th percentile). There is no history of birth asphyxia. While gross motor development appears normal, his speech remains delayed - he was able to say "dad" and "mom" at the age of two, and he still spoke mostly simple words and showed limited understanding of instructions at 6 years old. Physical examination revealed a height of 115 cm (15th-50th percentile), a weight of 21 kg (50th percentile), and a head circumference of 51.8 cm (50th percentile). Magnetic resonance imaging (MRI) of the brain showed no apparent abnormalities. Intelligence testing using the WISC-R indicated a language score of 56, an operational score of 55, and a total IQ of 48. 1 3 Xiaomei Luo
00459432 - - - M - - (not applicable) white - - - - NDD HP:0001263, HP:0010864, HP:0000717, HP:0000750, HP:0007018, HP:0025406, HP:0000271, HP:0002197 1 1 Marketa Wayhelova
00464317 R126 - - M no China Chinese - - - - ID Intellectual disability, language and motor developmental delay. 1 1 Xiaomei Luo
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