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939 Possible Causes for Coarse Face, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Proud Syndrome

    Abby is one of 14 finalists chosen from 4,500 entries to be a face of the range A mum has described her excitement and pride after her daughter was unveiled as the new face of a popular yogurt. Ann Dillon is the proud mum of 19-month-old Abby, who has Down Syndrome and has just been revealed as one of the[…][independent.ie]

    Missing: Mutation in the VPS53 Gene
  • Fucosidosis

    Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9[ncbi.nlm.nih.gov] He had a coarse face, hepatomegaly and generalized spasticity.[ncbi.nlm.nih.gov] As the disease progresses, more serious and ever worsening symptoms develop, including seizures, spastic quadriplegia, progressive mental retardation and chronic lung infections[disability-benefits-help.org]

    Missing: Mutation in the VPS53 Gene
  • Pontocerebellar Hypoplasia Type 2E

    80% and 100% cases Progressive spastic quadriplegia Very Common - Between 80% and 100% cases Opisthotonus Very Common - Between 80% and 100% cases Progressive microcephaly[mendelian.co] The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[popsci.com]

    Missing: Coarse Face
  • Mucopolysaccharidosis 1

    quadriplegia syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Congenital[se-atlas.de] […] disorder of glycosylation with epilepsy as a major feature Congenital disorder of glycosylation with neurological involvement Congenital ichthyosis-intellectual disability-spastic[se-atlas.de] Congenital cataract-hearing loss-severe developmental delay syndrome Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital cataract-progressive[se-atlas.de]

    Missing: Mutation in the VPS53 Gene
  • Roy-Maroteaux-Kremp Syndrome

    , and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Speech Disturbance - Use[rgd.mcw.edu] Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations[rgd.mcw.edu] Paraplegia, Ataxia, and Mental Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY Spastic Paraplegia, Sensorineural Deafness, Mental Retardation[rgd.mcw.edu]

    Missing: Mutation in the VPS53 Gene
  • Bhaskar-Jagannathan Syndrome

    , and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Speech Disturbance - Use[rgd.mcw.edu] Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations[rgd.mcw.edu] Paraplegia, Ataxia, and Mental Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY Spastic Paraplegia, Sensorineural Deafness, Mental Retardation[rgd.mcw.edu]

    Missing: Mutation in the VPS53 Gene
  • Davis-Lafer Syndrome

    , and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Speech Disturbance - Use[rgd.mcw.edu] Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations[rgd.mcw.edu] Paraplegia, Ataxia, and Mental Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY Spastic Paraplegia, Sensorineural Deafness, Mental Retardation[rgd.mcw.edu]

    Missing: Mutation in the VPS53 Gene
  • X-Linked Spastic Paraplegia Type 2

    A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he displayed no nystagmus[ncbi.nlm.nih.gov] Face 0 Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 0 Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 2 Metaphyseal Dysplasia[rgd.mcw.edu] We report spastic paraplegia type 2 in three individuals in one family.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Mucopolysaccharidosis

    ERT in the younger sibling resulted in increased growth, an improved 6-minute walk test, less coarse face, slower progression of cardiac valve disease, and the absence of[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Winchester Syndrome

    The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures[ncbi.nlm.nih.gov] Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes.[malacards.org] […] opacities, gum hypertrophy, and EKG coarse face Main biochemical alterations High ANA, high IL-6, and high IL-1β.[iofbonehealth.org]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia