All individuals with variants in gene SNX14

13 entries on 1 page. Showing entries 1 - 13.
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00025487 - PubMed: Thomas 2014 5-generation family, sister of 25439728_Fam1_IV.6 F yes Portugal - - 0 - - ID Severe cerebellar ataxia; severe intellectual disability; absent speech; coarse facial features; relative macrocephaly; brachycamptodactyly 5th finger; progressive cerebellar atrophy; Hypotonia; Talipes equinovarus; Hypo/areflexia; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Short and broad finger/toes; Elbow motion limitation; Sensorineural Hearing Loss; Pontine thinning 1 1 Marianne Vos (LOVD-team)
00027199 - PubMed: Thomas 2014 5 generation family; younger sister of 25439728_Fam1_IV.3; 4 unaffected siblings. F yes Portugal - - 0 pedigree available - ID severe cerebellar ataxia; severe intellectual disability (ID); severe impaired speech; coarse facial features; relative macrocephaly; brachycamptodactyly of fifth fingers; early-onset cerebellar atrophy; hypotonia; Talipes equino-varum; Hypo/areflexia; coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad deep long philtrum; Thick lip vermilions(upper + lower); Short and broad finger/toes; Elbow motion limitation; Hearing loss; 1 1 Marianne Vos (LOVD-team)
00027200 - PubMed: Thomas 2014 5 generation family; 4 affected; older sister of 25439728_Fam2_IV.2; 2nd aunt of 25439728_Fam2_V.1 and 25439728_Fam2_V.2. F yes Turkey - - 0 pedigree available - ID Severe ID; absent speech; ataxia; very late motor development; Talipes equino-varum; Hypo/areflexia; Coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrumþ; Thick lip vermilions (upper /lower); Scoliosis/kyphosis; Brachy/camptodactyly of 5th fingers; Short and broad finger/toes; Cerebellar atrophy 1 1 Marianne Vos (LOVD-team)
00027201 - PubMed: Thomas 2014 5 generation family; younger brother of 25439728_Fam2_IV.1; 2nd uncle to 25439728_Fam2_V.1 and 25439728_Fam2_V.2 M yes Turkey - - 0 pedigree available - ID Severe ID; absent speech; Hypotonia; ataxia; Hypo/areflexia; late motor development; coarse features; Short palpebral fissures; Short palpebral fissures; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Scoliosis/kyphosis; Brachy/camptodactyly of 5th fingers; Short and broad finger/toes; sensori neural hearing loss 1 1 Marianne Vos (LOVD-team)
00027202 - PubMed: Thomas 2014 5 generation family; sister to 25439728_Fam2_V.2; 2nd cousin to 25439728_Fam2_IV.1 and 25439728_Fam2_IV.2 F yes Turkey - - 0 pedigree available - ID Severe ID; absent speech; Hypotonia; late motor development; ataxia; Coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Brachy/camptodactyly of 5th fingers; SN hearing loss; Cerebellar atrophy; Pontine thinning. 1 1 Marianne Vos (LOVD-team)
00027203 - PubMed: Thomas 2014 5 generation family; younger brother of 25439728_Fam2_V.1; 2nd nephew of 25439728_Fam2_IV.1 and 25439728_Fam2_IV.2 M yes Turkey - - 0 pedigree available - ID ID NA; absent speech; hypotonia; late motor development; Coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Short and broad finger/toes; 1 1 Marianne Vos (LOVD-team)
00027204 - PubMed: Thomas 2014 3 generation family F yes Turkey - - 0 pedigree available - ID Moderate ID; impaired speech; hypotonia; late motor development; ataxia; Hypo/areflexia; Coarse features; Broad/bulbous nose; Thick lower lip vermilions; Brachy/camptodactyly of 5th fingers; Short and broad finger/toes; Elbow motion limitation; Sensineuronal hearing loss; progressive Cerebellar atrophy; Pontine thinning 1 1 Marianne Vos (LOVD-team)
00080817 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - SCAR20 Spinocerebellar ataxia type 20 (OMIM:616354) 1 1 Daniel Trujillano
00080946 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - SCAR20 Spinocerebellar ataxia, autosomal recessive 20 (OMIM:616354) 1 1 Daniel Trujillano
00081088 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - SCAR20 Spinocerebellar ataxia, autosomal recessive 20 (OMIM:616354) 1 1 Daniel Trujillano
00150160 26539891-FamBABCGD-62463468 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - ? intellectual diability, cerebellar atrophy 1 1 Johan den Dunnen
00150232 26539891-BAB3498 PubMed: Karaca 2015 2-generation family, 1 affected, unaffected carrier parents F - Turkey - - 0 - - ? intellectual disability, microcephaly, hypotonia 1 1 Johan den Dunnen
00387891 M9000121 PubMed: Hu 2019 family, 2 affected individuals, second cousin parents - yes Iran Persia - 0 - - ID syndromic intellectual disability, no microcephaly, epilepsy 1 2 Johan den Dunnen
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