All individuals with variants in gene TMEM240

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00152535 - - - F - (Germany) - - - - - ? Ataxia (HP:0001251); Myoclonus (HP:0001336) 1 1 IMGAG
00363500 178612 - - M ? Germany - - - - - SCA21 (+) Muscular hypotonia,(+) Motor delay,(+) Joint hypermobility,(+) Quadriceps muscle weakness,(+) Chronic constipation 1 1 Andreas Laner
00424060 Pat7 PubMed: Hijazi 2022 - M no - white;Europe - - - - NDD no prenatal complications; birth 38w, C-section; no postnatal complications; developmental delay (HP:0012758)/mild intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); seizures (HP:0001250); single words, short sentences; hypotonia (HP:0001319), lower leg spasticity; gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); no autism/autistic-like behavior (-HP:0000717); abnormal myelination (HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; no gastrointestinal abnormality (HP:0011024)-; no abnormality of the immune system (HP:0002715)-; premature puberty 1 1 Johan den Dunnen
00453450 - - - F - - (not applicable) white - - - - ataxia HP:0001337, HP:0001251 1 1 Marketa Wayhelova
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