All individuals with variants in gene SF3B4

29 entries on 1 page. Showing entries 1 - 29.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00078550 - PubMed: Bernier 2012 - F - - - >5y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (sparse); midface retrusion; micrognathia; cleft soft palate; abnormal ears; hearing loss; abnormal thumbs (stiff bilateral); radioulnar synostosis (bilateral) 1 1 Johan den Dunnen
00078551 - PubMed: Bernier 2012 father of F-2 M - - - >38y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; micrognathia; radioulnar synostosis; valgus laxity of knees and ankles 1 1 Johan den Dunnen
00078552 - PubMed: Bernier 2012 daughter of F-1 F - - - >1y - - - AFD1 Nager syndrome; Micrognathia; cleft palate; tracheotomy; hearing loss; radioulnar synostosis; subglottic stenosis 1 1 Johan den Dunnen
00078553 - PubMed: Bernier 2012 - F - - - >13y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; midface retrusion; micrognathia; ankylosis of temporomandibular joint; high arched, cleft soft palate; tracheotomy; abnormal ears; hearing loss; absent right thumb and small and stiff left thumb; radioulnar synostosis; delayed development; limited range of movement in elbows and shoulders, camptodactyly, left clubfoot, renal abnormalities, ventriculoseptal defect and dacryostenosis 1 1 Johan den Dunnen
00078554 - PubMed: Bernier 2012 Clinical features not determined F - - - >15y - - - AFD1 Nager syndrome 1 1 Johan den Dunnen
00078555 - PubMed: Bernier 2012 - F - - - >1y - - - AFD1 Nager syndrome; Absent lower eyelashes (minimal); midface retrusion; micrognathia; abnormal soft palate; abnormal ears; hearing loss; radial ray abnormality; absent thumbs (bilateral); hair extension on cheek, strabismus, mitral valve prolapse, and limited range of movement in elbows 1 1 Johan den Dunnen
00078556 - PubMed: Bernier 2012 - M - - - >2y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; abnormal palate; abnormal ears; hearing loss; radial ray abnormality; abnormal thumbs; radioulnar synostosis; intellectual disability 1 1 Johan den Dunnen
00078557 - PubMed: Bernier 2012 son of J-2 M - - - >17y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; midface retrusion; micrognathia; tracheotomy; abnormal ears; hearing loss; abnormal thumbs 1 1 Johan den Dunnen
00078558 - PubMed: Bernier 2012 mother of J-1 F - - - >56y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; micrognathia 1 1 Johan den Dunnen
00078559 - PubMed: Bernier 2012 - M - - - >2y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (decreased); midface retrusion; micrognathia; abnormal soft palate; abnormal ears; hearing loss; radial ray abnormality; abnormal thumbs (proximally placed and stiff); radioulnar synostosis (right) 1 1 Johan den Dunnen
00078560 - PubMed: Bernier 2012 - F - - - >4y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; high arched palate; tracheotomy; abnormal ears; radial ray abnormality; abnormal thumbs; short stature and bilateral syndactyly of the 4th and 5th toes 1 1 Johan den Dunnen
00078561 - PubMed: Bernier 2012 - F - - - >12y - - - AFD1 Nager syndrome; Micrognathia; ankylosis of temporomandibular joint; cleft palate; tracheotomy; hearing loss; radial ray abnormality; abnormal thumbs (absent bilateral); radioulnar synostosis 1 1 Johan den Dunnen
00078562 - PubMed: Bernier 2012 - F - - - >4y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; micrognathia; hearing loss; radial ray abnormality; absent left thumb and fused right distal interphalangeal joint; radioulnar synostosis; limited range of motion in all extremities at birth, arachnodactyly, and small 5th fingers 1 1 Johan den Dunnen
00078563 - PubMed: Bernier 2012 - F - - - >4y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; tracheotomy; abnormal ears; radial ray abnormality; abnormal thumbs; radioulnar synostosis; ventriculoseptal defect and diaphragmatic hernia 1 1 Johan den Dunnen
00078564 - PubMed: Bernier 2012 - F - - - >24y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; midface retrusion; micrognathia; tracheotomy; abnormal ears; hearing loss; small right thumb and slender left thumb; radioulnar synostosis (unilateral); abnormal teeth, partial absence of left fingers 3-5, slencer haluces, and hallux valgus 1 1 Johan den Dunnen
00078565 - PubMed: Bernier 2012 - F - - - >28y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (sparse); midface retrusion; micrognathia; abnormal ears; hearing loss; small abnormal thumbs 1 1 Johan den Dunnen
00078566 - PubMed: Bernier 2012 - M - - - >2y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; cleft palate; tracheotomy; abnormal ears; radial ray abnormality (absent bilateral); abnormal thumbs (absent bilateral); delayed development; fused 1st and 2nd right metacarpals and bilateral foot deformities 1 1 Johan den Dunnen
00078567 - PubMed: Bernier 2012 son of O-2 M - - - >1y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; micrognathia; abnormal soft palate; abnormal ears; hearing loss; absent right thumb and small left thumb 1 1 Johan den Dunnen
00078568 - PubMed: Bernier 2012 mother of O-1 F - - - >28y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; micrognathia; abnormal soft palate; abnormal ears; hearing loss; small abnormal thumbs; radioulnar synostosis (bilateral) 1 1 Johan den Dunnen
00078569 - PubMed: Bernier 2012 - F - - - >23y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; abnormal ears (mild); hearing loss; abnormal thumbs (hypoplasia); radioulnar synostosis (bilateral); speech delay; asymmetric face, velopharyngeal insufficiency; and cervical ribs 1 1 Johan den Dunnen
00078570 - PubMed: Bernier 2012 mother (in publication: father) of M-2, M-3 F - - - >49y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; cleft palate; abnormal ears (cupped); hearing loss; abnormal thumbs (small) 1 1 Johan den Dunnen
00078571 - PubMed: Bernier 2012 son of M-1 M - - - >20y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (sparse); midface retrusion; micrognathia; tracheotomy; abnormal ears (cupped, narrow canals); hearing loss; absent right thumb and small left thumb; radioulnar synostosis (right > left); delayed speech and fine motor; short stature (3-5%), dacryostenosis, and small first toes and first metatarsals 1 1 Johan den Dunnen
00078572 - PubMed: Bernier 2012 son of M-1 M - - - >17y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; midface retrusion; micrognathia; abnormal palate; abnormal ears (cupped, narrow canals); hearing loss; small right thumb compared to left; radioulnar synostosis (left); delayed development; dacryostenosis, short first metatarsals, and sandal gap 1 1 Johan den Dunnen
00078573 - PubMed: Bernier 2012 - F - - - >5y - - - AFD1 Nager syndrome; Absent lower eyelashes; micrognathia; cleft palate; hearing loss; radial ray abnormality; abnormal thumbs 1 1 Johan den Dunnen
00078574 - PubMed: Bernier 2012 - F - - - >7y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; abnormal palate; abnormal ears; hearing loss; radial ray abnormality (short); abnormal thumbs (stiff bilateral) 1 1 Johan den Dunnen
00078575 - - - M no Italy - - - - - AFD1 Nager syndrome 1 1 Eva Trevisson
00289517 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00449542 Pat2 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., premature placental abruption; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; dissociative motor disorder, borderline personality disorder, recurrent depressive disorders, eating disorder; hypotonia; no seizure; brain MRI/CT normal; patent ductus arteriosus, patent foramen ovale, pulmonary artery stenosis; urinary incontinence; no gastrointestinal anomalies; long face, down-slanted palpebral fissures, retrognathy, low-set ears (can be attributed to SF3B4 variant); hearing impairment; median cleft palate; dental crowding (can be attributed to SF3B4 variant) 1 1 Johan den Dunnen
00467266 CLP-1247-3 CLP-1247-3 - F no - - - - - - CLP posterior cleft palate 1 1 Miikka Vikkula
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.