All individuals with variants in gene IFT43

9 entries on 1 page. Showing entries 1 - 9.
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     
00300254 FamPKRD272PatIII1 PubMed: Biswas 2017 6-generation family, 9 affected (3F, 6M) F yes Pakistan - - - - - retinal disease normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 30y-optic nerve pallor, retinal vessel attenuation, bone spicule pigmentary change anterior to arcades and in nasal retina, extensive RPE, choroidal atrophy each macula; 46y-full field ERG responses undetectable to all stimulus conditions 1 9 Johan den Dunnen
00300255 FamPKRD272PatIII2 PubMed: Biswas 2017 brother M yes Pakistan - - - - - retinal disease normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 42y-full field ERG responses undetectable to all stimulus conditions 1 1 Johan den Dunnen
00300256 FamPKRD272PatIII7 PubMed: Biswas 2017 brother M yes Pakistan - - - - - retinal disease normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 46y-full field ERG responses undetectable to all stimulus conditions 1 1 Johan den Dunnen
00300257 FamPKRD272PatIII8 PubMed: Biswas 2017 brother M yes Pakistan - - - - - retinal disease normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 23y-optic nerve pallor, retinal vessel attenuation, bone spicule pigmentary change anterior to arcades and in nasal retina, smaller area of RPE, choroidal atrophy macula; 28y-full field ERG responses undetectable to all stimulus conditions 1 1 Johan den Dunnen
00300258 Fa,P05-101PatII1 PubMed: Arts 2011 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Morocco - - - - - CED no dolichocephaly/scaphocephaly; no craniosynostosis; no frontal bossing; no macrocephaly; no telecanthus; no everted lower lip; no micrognathia; hypoplastic teeth; widely spaced teeth; short broad nails; fine hair; no skin laxity; dry skin; narrow thorax; no pectus excavatum; short humeri; brachydactyly; webbing of fingers; no postaxial polydactyly; restricted flexion of fingers; syndactyly of 2-3-4 toes; no bilateral sandal gap; joint laxity; nephronophthisis; no liver disease; no heart disease; no neurological findings; no recurrent lung infections, normal intelligence; height 112 cm (-2.5 SD) 1 2 Johan den Dunnen
00300259 FamP05-1040PatII2 PubMed: Arts 2011 brother M yes Morocco - - - - - CED scaphocephaly; sagittal suture synostosis; frontal bossing; no macrocephaly; telecanthus; everted lower lip; micrognathia; hypoplastic teeth; widely spaced teeth; short broad nails; sparse hair, fine hair; skin laxity; dry skin; narrow thorax; no pectus excavatum; bowing of humeri; brachydactyly; webbing of fingers; bilateral postaxial polydactyly feet, bilateral postaxial polydactyly hands; no restricted flexion of fingers; syndactyly of 2-3 and 5-6 toes; bilateral sandal gap; joint laxity; nephronophthisis, 3y-end-stage renal disease; neonatal cholestasis, liver cirrhosi; peripheral pulmonary stenosis; no neurological findings; no recurrent lung infections; normal intelligence; height 91 cm (<<-2.5 SD) 1 1 Johan den Dunnen
00300260 R06-303A PubMed: Duran 2017 3-generation family, affected sister/fetus, unaffected heterozygous carrier parents/relatives F - United States - - - - - SRTD 30w-delivery; dolichocephaly; brain with abnormal folding of the left hippocampus, neuroglial heterotopias in the roof of the temporal horn, and mildly dilated ventricles; hypertelorism, bilateral epicanthal folds; thin upper lip, attached to maxilla by mucosal fold, micrognathia; small chest, abnormally bent ribs, mild platyspondyly; liver with ductal abnormalities, pancreas with stellate area of fibrosis in the tail; abnormal maturation of the kidneys with a poorly formed nephrogenic zone, thin cortex and medulla, and fibrosis; micromelia, reverse campomelia of humeri, curved radii, and ulnae; abnormal ilia; micromelia, thin fibulae; postaxial polydactyly with brachydactyly, bilateral simian creases, bilateral partial syndactyly of the second and third toes 1 2 Johan den Dunnen
00300261 R03-121 PubMed: Duran 2017 4-generation family, affected sister/fetus, unaffected heterozygous carrier parents/relatives F - United States European - - - - SRTD 18w-delivery; poor mineralization of the calvarium; mild hydrocephalus; no reported abnormalities; no reported abnormalities; narrow and barrel shaped chest, short, bent and decreased number of ribs (11), vertebrae flattened and abnormally wedged with round anterior ends; malrotation of the intestines; polycystic kidneys; micromelia, decreased mineralization with curved radii and ulnae; abnormal ilia with decreased height, narrow sciatic notch, hypoplastic ischium; micromelia, angulated femur, hypoplastic tibae and fibulae; preaxial polydactyly, brachydactyly and aphalangia in hands 1 2 Johan den Dunnen
00388467 R98-413A PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - East Asian - - - - ? - 1 1 LOVD
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.