All individuals with variants in gene MTSS1L

8 entries on 1 page. Showing entries 1 - 8.
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00225697 25558065-Fam10DG0264 PubMed: Alazami 2015, Journal: Alazami 2015 5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - ? see paper; …, neurodegeneration and brain iron accumulation 1 3 Johan den Dunnen
00308750 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00417218 Pat2 PubMed: Huang 2022 2 generation family, 1 affected, unaffected non carrier parents. F no - Europe >42y - - - ID Intellectual disability, mild (HP:0001256); no Global developmental delay (-HP:0001263); Autistic behavior (HP:0000729); Seizure (HP:0001250); Sensorineural hearing impairment (HP:0000407); Microcephaly (HP:0000252); Microcephaly (HP:0000252) ; Ophthalmological anomalies (optic atrophy) 1 1 Fernanda Soledad Jalil
00417243 Pat3 PubMed: Huang 2022 2-generation family, 1 affected, unaffected no carrier parents. M no - Europe >15y - - - ID Intellectual disability, mild (HP:0001256); no Global developmental delay (-HP:0001263); no Autistic behavior (-HP:0000729); no Seizure (-HP:0001250) ; Microcephaly (HP:0000252) ; Ophthalmological anomalies (nystagmus, ptosis) 1 1 Fernanda Soledad Jalil
00417244 Pat4 PubMed: Huang 2022 2-generation family, 1 affected, unaffected no carrier parents. M no - Europe >00y14m - - - ID Global developmental delay (HP:0001263); ; no Seizure (-HP:0001250); no Sensorineural hearing impairment (-HP:0000407); Microcephaly (HP:0000252) ; Ophthalmological anomalies (bilateral iris cysts) 1 1 Fernanda Soledad Jalil
00417245 Pat5 PubMed: Huang 2022 2-generation family, 1 affected, unaffected no carrier parents. M no - chinese >00y21m - - - ID Global developmental delay (HP:0001263); no Seizure (-HP:0001250); no Sensorineural hearing impairment (-HP:0000407); Microcephaly (HP:0000252); Microcephaly (HP:0000252) ; Ophthalmological anomalies (nystagmus, ptosis) 1 1 Fernanda Soledad Jalil
00431383 Pat1 PubMed: Huang 2022 2 generation family, 1 affected, unaffected non carrier parents. M no - Europe >08y - - - ID mild intellectual disability (HP:0001256); no global developmental delay (-HP:0001263); autism spectrum disorder (HP:0000729); no seizures (-HP:0001250); nystagmus, foveal hypoplasia; sensorineural hearing loss (HP:0000407); upslanting palpebral fissures, epicanthal folds, bitemporal narrowing; relative microcephaly (0.40); height (0.83) 1 1 Fernanda Soledad Jalil
00435478 - - - M no Mexico Latino - - - - DD Gobal developmental delay 1 1 Juan Carlos Zenteno
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