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123 Possible Causes for Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene, Mongoloid Slant

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    (OMIM phenotype number #615716 ) Hyperphosphatasia with mental retardation syndrome 4 (HPRMS4) is a rare autosomal recessive form of HPRMS (see also HPMRS1). This disease is caused by homozygous or compound heterozygous mutation in the PGAP3 gene, encoding a protein that is involved in[…][iofbonehealth.org]

  • Wolcott-Rallison Syndrome

    Wolcott-Rallison syndrome (WRS) (OMIM 226980) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3[…][ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
  • Kaufman Oculocerebrofacial Syndrome

    Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia[ncbi.nlm.nih.gov] slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible. * [19461] References: Kaufman[wellnessadvocate.com] slanting palpebral fissures Frequent - Absent / decreased / thin eyebrows - Blepharophimosis / short palpebral fissures - Complete / partial microdontia - Epicanthic folds[csbg.cnb.csic.es]

    Missing: Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
  • Down Syndrome

    In addition to ocular features related to DS such as epicanthal folds, narrowed or slanted palpebral fissures (the mongoloid slant) and Brushfield spots (38–85%)(Fig. 4 ),[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
  • Alagille Syndrome

    Long list of symptoms include dysmorphic (flat) facies sometimes referred to as cholestasis facies, with prominent forehead, mongoloid slant, mild hypertelorism, straight[whonamedit.com]

    Missing: Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
  • Pitt-Hopkins Syndrome

    Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the[…][ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
  • Blepharofacioskeletal Syndrome

    We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition. ß 2008 Wiley-Liss, Inc.[…][researchgate.net]

    Missing: Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
  • Atkin Syndrome

    Abstract We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers. Although these patients' phenotypes showed considerable overlap with the Coffin-Lowry and the Atkin-Flaitz syndromes, their overall picture makes[…][ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
  • Zellweger Syndrome

    Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive neurodegenerative disorders that affect multiple organ systems. Approximately 80% of PBD patients are classified in the Zellweger syndrome spectrum (PBD-ZSS). Mutations in the PEX1, PEX6, PEX10, PEX12, or PEX26 genes are found[…][ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
  • Miller Dieker Syndrome

    Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain ( cerebral cortex ) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. These brain[…][ghr.nlm.nih.gov]

    Missing: Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene

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