All individuals with variants in gene DEAF1

11 entries on 1 page. Showing entries 1 - 11.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00016656 MRtrio5/Pat1 PubMed: Vissers 2010, PubMed: Vulto van Silfhout 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? (Netherlands) - - - - - ID mild motor delay, no speech, severe ID, poor eyecontact, behavioral problems, autism, mood swings, fascinations, high pain threshold, abnormal walking pattern, thin and fair hair, straight eyebrows, full nasal tip, full lower lip, prominent chin, upslant, epicantic folds, fetal finger pads, Skin syndactyly in toes 2 and 3, Hyperlaxity, Recurrent infections in childhood, scrotal raphe, flat feet 1 1 Marianne Vos (LOVD-team)
00016662 - PubMed: Vulto van Silfhout 2014 - F ? - Unknown - - - - ID - 1 1 Marianne Vos (LOVD-team)
00081049 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - VSVS;MRD24 Mental retardation, autosomal dominant 24 (OMIM:615828) 1 1 Daniel Trujillano
00296791 APN-109 PubMed: Redin 2014 2-generation family, affected male, unaffected heterozygous carrier mother M - France - - - - - ID severe intellectual disability, developmental delay, poor speech, pain resistance, dysmorphic features, aggressive behaviour 1 1 Johan den Dunnen
00302986 Pat31 PubMed: Helbig 2016 - - - United States - - - - - seizures Focal epilepsy, unclassified; age onset adolescent 1 1 Johan den Dunnen
00316134 K190 PubMed: Heidet 2017 affected patient and 1st degree relative (deafness) - - France - - - - - CAKUT renal hypoplasia; renal dysplasia; cysts 1 2 Johan den Dunnen
00359461 - - - M - - - - - - - ? Microcephaly (HP:0000252); Hearing abnormality (HP:0000364); Hearing impairment (HP:0000365); Strabismus (HP:0000486); Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Absent speech (HP:0001344); Ventricular septal defect (HP:0001629); Sleep disturbance (HP:0002360); Intellectual disability, severe (HP:0010864); Cerebral palsy (HP:0100021); Talipes (HP:0001883) 1 1 IMGAG
00374710 S-1593 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00426118 10DK7400 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - ID - 1 1 Johan den Dunnen
00447941 Pat9 PubMed: Ostrander 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - EIEE see paper; ..., postnatal microcephaly, hypotonia, global developmental delay, polymyoclonus; seizure types myoclonic, atonic, myoclonic, partial seizures, generalized tonic clonic, atypical absence; EEG 1-2hz delta, generalized spike wave; MRI brain delayed myelination 1 1 Johan den Dunnen
00457922 - - - F - - (not applicable) white - - - - NDD HP:0001263, HP:0001250 1 1 Marketa Wayhelova
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