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653 Possible Causes for Caused by Mutation in the Phosphoglucomutase-3 Gene, Desbuquois Dysplasia

  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[scilit.net] mutation in the phosphoglucomutase 3 (PGM3) gene.[springermedizin.de] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[f1000.com]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] CONCLUSION: The present patient may represent the mildest end of the variable phenotypic manifestation of the recently described Desbuquois dysplasia.[ncbi.nlm.nih.gov] We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Phosphoglucomutase-3 Gene
  • Diastrophic Dysplasia

    The new complement of features in this patient fell in a range between Desbuquois dysplasia and diastrophic dysplasia.[ncbi.nlm.nih.gov] Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group.[ncbi.nlm.nih.gov] A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Phosphoglucomutase-3 Gene
  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    , cartilage-hair dysplasia, chondrodysplasia, desbuquois dysplasia, fibular hypoplasia, Meier-Gorlin syndrome, metaphyseal dysplasia, ostogenesis imperfecta, pycnodystosis[genomeweb.com] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com] Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[qlinics.com]

    Missing: Caused by Mutation in the Phosphoglucomutase-3 Gene
  • Metaphyseal Acroscyphodysplasia

    , Autosomal Dominant Cystinosis, Nephropathic Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Dyssegmental Dysplasia, Rolland-Desbuquois Type Fibrochondrogenesis 2 Fibrodysplasia[familydiagnosis.com] Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it] Dyssegmental dysplasia group Dyssegmental dysplasia, Silverman-Handmaker Type AR Dyssegmental dysplasia, Rolland-Desbuquois Type AR 8.[gamuts.isradiology.org]

    Missing: Caused by Mutation in the Phosphoglucomutase-3 Gene
  • Autosomal Dominant Myoglobinuria

    Dysplasia 2 1 Desbuquois Syndrome 2 Desmoid Disease, Hereditary 1 Desmosterolosis 4 Developmental Delay and Seizures with or without Movement Abnormalities 2 Diabetes Insipidus[preventiongenetics.com] Phosphoglycerate mutase deficiency is caused by a mutation in the PGAM2 gene.[sites.google.com] Dentinogenesis Imperfecta Shields Type 3 2 Dermatitis, Atopic, 2 1 Dermatofibrosis Lenticularis Disseminata 1 Dermatopathia Pigmentosa Reticularis 3 Desanto-Shinawi syndrome 1 Desbuquois[preventiongenetics.com]

  • Dappled Diaphyseal Dysplasia

    Dyssegmental dysplasia group Dyssegmental dysplasia, Silverman-Handmaker Type AR Dyssegmental dysplasia, Rolland-Desbuquois Type AR 8.[gamuts.isradiology.org] Dyssegmental dysplasia groupDyssegmental dysplasiaSilverman-Handmaker typeAR Dyssegmental dysplasiaRolland-Desbuquois typeAR 8.[dokumen.tips] Dyssegmental dysplasia, Silverman-Handmaker type 16. Dyssegmental dysplasia, Rolland-Desbuquois type 17. Campomelic dysplasia 18.[yumpu.com]

    Missing: Caused by Mutation in the Phosphoglucomutase-3 Gene
  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[qlinics.com] dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] PANELES: ACP5 Spondyloenchondrodysplasia with immune dysregulation B3GALT6 Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity CANT1 Desbuquois dysplasia[genda.com.ar]

    Missing: Caused by Mutation in the Phosphoglucomutase-3 Gene
  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com] Congenital Micromelic Dysplasia with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Eiken[rgd.mcw.edu]

    Missing: Caused by Mutation in the Phosphoglucomutase-3 Gene
  • Calvarial Doughnut Lesions - Bone Fragility Syndrome

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de] Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[axon.es] Dyggve-Melchior-Clausen Dysplasia ; 43. Spondylo-epi-metaphyseal Dysplasia, short limb abnormal calcification type ; 44. SPONASTRIME Dysplasia ; 45.[amazon.de]

    Missing: Caused by Mutation in the Phosphoglucomutase-3 Gene

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