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4,340 Possible Causes for Growth Retardation, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • 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] Affected infants often experience seizures, postnatal growth retardation, and microcephaly, a term used to describe head circumference that is smaller than would be expected[rarediseases.org] 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]

  • 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] retardation.[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
  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] retardation, and episodic hyperammonemia.[ncbi.nlm.nih.gov] Main features include failure to thrive, signs of hyperammonemia (anorexia, irritability, tachypnea, lethargy, vomiting), and additional neurologic signs (progressive spastic[accessanesthesiology.mhmedical.com]

    Missing: Mutation in the VPS53 Gene
  • Autosomal Recessive Primary Microcephaly Type 10

    Intrauterine growth retardation MedGen UID: 473406 • Concept ID: C1386048 • Pathologic Function Prominent nasal bridge MedGen UID: 343051 • Concept ID: C1854113 • Finding[ncbi.nlm.nih.gov] PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] retardation Intrauterine growth retardation Cerebral cortical atrophy Patent ductus arteriosus Thin vermilion border Epileptic spasms Cortical gyral simplification Global[mendelian.co]

    Missing: Progressive Spastic Quadriplegia
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

    progressive spastic diplegia • quadriplegia, • intellectual impairment, •recurrent vomiting, •delayed growth, • seizures. 29. hyperinsulinism hyperammonemia syndrome (glutamatedehydrogenase[slideshare.net] […] disorders, and growth retardation Adult-Onset Type: Learning disabilities, avoidance of high-protein content food, confusion, and ataxia Provide adequate hydration and calories[accessanesthesiology.mhmedical.com] Growth may be retarded. Childhood onset Ataxia or choreoathetosis episodes may occur, with normal neurological function between episodes.[emedicine.medscape.com]

    Missing: Mutation in the VPS53 Gene
  • Hoyeraal-Hreidarsson Syndrome

    , Mental Retardation, and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation SPASTIC[rgd.mcw.edu] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] Medical Genetics Original Paper Abstract We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental[link.springer.com]

    Missing: Mutation in the VPS53 Gene
  • Valinemia

    Symptoms and Signs Among the symptoms of Valinemia are vomiting, hypotonia, growth retardation, failure to thrive, and poor feeding.[dianamossop.com] PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] Valinemia Symptoms and Signs Among the symptoms of Valinemia are vomiting, hypotonia, growth retardation, failure to thrive, and poor feeding.[naturalcurefor.com]

    Missing: Progressive Spastic Quadriplegia
  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    […] syndrome Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II Congenital erythropoietic porphyria Congenital ichthyosis-intellectual disability-spastic[se-atlas.de] Symptoms: Hepatomegaly Hypoglycemia Occasionally ketoacidosis, growth retardation, hyperlipidemia Adult hypotonia and muscle wasting Polycystic ovaries Cardiomyopathy Tests[quizlet.com] Long-term complications of untreated GSDI include growth retardation resulting in short stature, osteoporosis, delayed puberty, gout, renal disease, pulmonary hypertension[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Smith Lemli Opitz Syndrome

    , and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Speech Disturbance - Use[rgd.mcw.edu] Amniocentesis was performed at 17.3 weeks in a pregnancy with severe intrauterine growth retardation.[ncbi.nlm.nih.gov] The pregnancy was complicated by prenatal growth retardation. The baby was admitted to the Neonatal Intensive Care Unit of Chieti when she was five months old.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    spastic quadriplegia Metaphyseal sclerosis Madelung deformity Decrease in T cell count Spondylometaphyseal dysplasia Immune dysregulation Tubulointerstitial fibrosis Abnormality[mendelian.co] […] post-natal growth retardation pter qter 12384779 TP Edit 50 10594874_2 46, XY [293]/ 47, XY, 7 [56]/ 46, XY, r(7) [60]/ 47, XY, 7, r(7)[2] intrauterine growth retardation,[chr7.org] The phenotype varies from normal growth and head circumference with mild psychomotor retardation and lack of eczema to severe growth and mental retardation, microcephaly,[icd10data.com]

    Missing: Mutation in the VPS53 Gene

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