All individuals with variants in gene COL27A1

18 entries on 1 page. Showing entries 1 - 18.
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     
00276331 FamPatII1 PubMed: Gonzaga-Jauregui 2015 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents M - Puerto Rico Hispanic - - - - ODCD short stature, scoliosis, carpal coalition, dislocated hips, radial head location, no pes caves;mild midface hypoplasia with slightly anteverted nares, bilateral fifth finger clinodactyly, decreased adduction of the hips bilaterally, pes planus; decreased elbow extension bilaterally, thoracic levoscoliosis, bilateral capitate, hamate bone coalitions, no intellectual disability 1 3 Johan den Dunnen
00276332 FamPatII2 PubMed: Gonzaga-Jauregui 2015 PatII2 F - Puerto Rico Hispanic - - - - ODCD short stature, scoliosis, carpal coalition, dislocated hips, no radial head location, no pes caveslmild midface hypoplasia with slightly anteverted nares, bilateral fifth finger clinodactyly, decreased adduction of the hips bilaterally, pes planus, lumbar lordosis, mild thoracic scoliosis, bilateral capitate, hamate bone coalitions, no intellectual disability 1 1 Johan den Dunnen
00276333 FamPatII3 PubMed: Gonzaga-Jauregui 2015 PatII3 F - Puerto Rico Hispanic - - - - ODCD - 1 1 Johan den Dunnen
00276334 - PubMed: Belbini 2017 - - - United States Puerto Rico, Hispanic - - - - ODCD see paper; ..., short stature, congenital hip dislocation 1 1 Johan den Dunnen
00276335 - PubMed: Belbini 2017 - - - United States Puerto Rico, Hispanic - - - - ODCD see paper; ..., short stature, congenital hip dislocation 1 1 Johan den Dunnen
00276336 - PubMed: Belbini 2017 - - - United States Puerto Rico, Hispanic - - - - ODCD see paper; ..., short stature, congenital hip dislocation 1 1 Johan den Dunnen
00276337 - PubMed: Belbini 2017 - - - United States Puerto Rico, Hispanic - - - - ODCD see paper; ..., short stature, congenital hip dislocation 1 1 Johan den Dunnen
00276338 - PubMed: Belbini 2017 - - - United States Puerto Rico, Hispanic - - - - ODCD see paper; ..., short stature, leg length discrepancy 1 1 Johan den Dunnen
00276339 - PubMed: Belbini 2017 analysis 34 heterozygote carriers - - United States Puerto Rico, Hispanic - - - - ? 13/34 spinal degeneration ranging from severe (multiple level cord compression and neurologic symptoms necessitating surgery) to moderate (lower back pain managed with physical therapy or medication), 8/34 scoliosis, 13/34 arthritis, 10/34 lumbar spine degeneration, 5/34 cervical stenosis 1 34 Johan den Dunnen
00276340 - PubMed: Kotabagi 2017 - F no India - - - - - ODCD see paper; ..., facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis, vertical talus 2 1 Johan den Dunnen
00276341 - PubMed: Gariballa 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes United Arab Emirates - - - - - ODCD see paper; ..., bilateral hip dislocations, short upper limbs, normal developmental milestones, delayed speech, flat midface, short upturned nose, thin lips, mild rhizomelic shortening upper limbs with contractures right elbow, genu valgum with mild bowing femur; 2y6m severe bilateral sensorineural hearing loss 1 1 Johan den Dunnen
00276344 Pat1 PubMed: Amlie-Wolf 2020 - M - United States Puerto Rico, Hispanic - - - - ODCD radial head dislocation elbow; short stature; scoliosis 1 1 Johan den Dunnen
00276345 Pat2 PubMed: Amlie-Wolf 2020 - F - United States Puerto Rico, Hispanic - - - - ODCD short stature; scoliosis 1 1 Johan den Dunnen
00276346 Pat3 PubMed: Amlie-Wolf 2020 - M - United States Puerto Rico, Hispanic - - - - ODCD radial head dislocation elbow; scoliosis 1 1 Johan den Dunnen
00276347 - PubMed: Pölsler 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Syria - - - - - ODCD see paper; ..., short stature, massive malalignment large joints, kyphoscoliosis, hearing loss, typical facial dysmorphism, bilateral colobomata irides, choroido‐retinae with unilateral affection macula 2 1 Johan den Dunnen
00289379 - - - - - China - - - - - STLS webbed neck, low hairline, cubitus valgus, and congenital scoliosis 2 1 Xiao Zhai
00301707 17-5919 PubMed: Maddirevula 2019 - - - - - - - - - ? global developmental delay and abnormal skeletal findings. He has history of hip dislocation and inguinal hernia. His parents are first cousin and he has a similarly affected brother. Examination revealed dysmorphic facies (prominent forehead, depressed nasal bridge, smooth philtrum, conical teeth and low-set ears), scoliosis and undescended testicles. 1 1 Johan den Dunnen
00462260 Fam1PatIV4/5/6 PubMed: Acevedo 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Brazil - - - - - RNS see paper; ..., hypoplastic amelogenesis imperfecta (abnormal dental enamel formation), mild facial dysmorphism, no other obvious skeletal/growth abnormalities; mild hypophosphataemia and soft tissue ectopic mineralization 1 3 Johan den Dunnen
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.