All individuals with variants in gene RSPRY1

8 entries on 1 page. Showing entries 1 - 8.
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     
00065289 Fam1PatIV1 PubMed: Faden 2015, Journal: Faden 2015 2-generation family, 4 affecteds (3F, M), unaffected heterozygous carrier parents, patientIV1 F yes Saudi Arabia - >18y - - - ? Short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), Craniosynostosis (HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273) 1 4 Pieter Klap
00065290 Fam1PatIV2 PubMed: Faden 2015, Journal: Faden 2015 patient IV2 F yes Saudi Arabia - >16y - - - ? Short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), Craniosynostosis (HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273) 1 1 Pieter Klap
00065291 Fam1PatIV3 PubMed: Faden 2015, Journal: Faden 2015 patient IV3 F yes Saudi Arabia - >13y - - - ? Short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), Craniosynostosis (HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273) 1 1 Pieter Klap
00065292 Fam1PatIV6 PubMed: Faden 2015, Journal: Faden 2015 patient IV6 M yes Saudi Arabia - >09y06m - - - ? Short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), Craniosynostosis (HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273) 1 1 Pieter Klap
00065293 Fam2PatII1 PubMed: Faden 2015, Journal: Faden 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada Peruvian >07y06m - - - SEMDFA diagnosed as Progressive Skeletal Dysplasia; short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), no craniosynostosis (-HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273) 1 1 Pieter Klap
00331557 12DG1385 ,12DG1386, 12DG1387,12DG1400 PubMed: Maddirevula 2018 family, 4 affected (4F) F yes - Arab - - - - skeletal dysplasia Short stature, Plagiocephaly, Oxycephaly, Low-set ears, Frontal bossing, Hypertolerism, EpNo 1 4 LOVD
00444508 Pat10 PubMed: Riquin 2023 patient F - France - - - - - NDD Craniosynostosis, mild global developmental delay, bilateral microtia, strabismus, choanal stenosis, short stature (-2 SD) 1 1 Johan den Dunnen
00469816 family;? PubMed: Jacob 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes India - - - - - skeletal dysplasia see paper; ..., spondyloepimetaphyseal dysplasia, short stature, progressive vertebral defects, small epiphysis, cupping, fraying metaphyses, brachydactyly, short metatarsals; broad forehead, left exotropia, mild ptosis, depressed nasal bridge, high arched palate, low set ears, mid-face retrusion, short neck, brachydactyly, protruded belly, lumbar lordosis, overriding toes, bilateral abducted foot, wind-swept deformity; squint eyes, bilateral myopia, left mild ptosis 1 2 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.