All individuals with variants in gene LFNG

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00331505 15DG0700 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Atlantoaxial abnormality, Abnormality of the vertebral column, Hemivertebrae, Butterfly No 1 1 LOVD
00427959 - - - F no Algeria - 00y01m - - - SCDO3 Polyhydramnios HP:0001561 Respiratory distress HP:0002098 Kyphoscoliosis HP:0002751 Rib fusion HP:0000902 Hemivertebrae HP:0002937 Thoracic dysplasia HP:0006644 Pulmonary hypoplasia HP:0002089 Absent/hypoplastic coccyx HP:0008436 2 1 Edoardo Errichiello
00427960 - - - F no Italy - - - - - SCDO3 Respiratory distress HP:0002098 Hemivertebrae HP:0002937 Vertebral fusion HP:0002948 2 1 Edoardo Errichiello
00427961 - - - F yes Morocco - - - - - SCDO3 Spinal dysraphism HP:0010301 Hemivertebrae HP:0002937 Rib fusion HP:0000902 Short stature HP:0004322 Pectus carinatum HP:0000768 Butterfly vertebrae HP:0003316 Pulmonary hypoplasia HP:0002089 1 1 Edoardo Errichiello
00428040 patient PubMed: Sparrow 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Lebanon - - - - - SCDO long, slender fingers, camptodactyly left index finger; multiple vertebral ossification centers thoracic spine showing fitted angular shapes; severe foreshortening spine; non-progressive scoliosis cervical/thoracic spine; vertebral anomalies cervical/lumbar spine 1 1 Johan den Dunnen
00428041 patient PubMed: Otomo 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - SCDO spinal deformity; height SD−2.5; multiple vertebral anomalies, cervical to sacral vertebrae, defect/fusion of ribs; no scoliosis, no dysplasia of tubular bones; no respiratory problem, no hand abnormalities; inguinal herniation 2 1 Johan den Dunnen
00431334 - - 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Costa Rica - - - - - SCDO3 Short stature (10th to 25th %), vertebral segmental defects and rib fusions (9 right ribs and 10 left), left 38-degree scoliosis at L1/S1, 44-degree lordosis at L1/S1, and 32-degree kyphosis at T2/T12. 2 1 Parker Cole Wengryn
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