565 Matching Annotations
  1. Sep 2019
    1. triangular face
    2. aggressivity
    3. no eye contact,
    4. social interaction
    5. autistic
    6. yes
    7. severe
    8. no speech
    9. 122 cm (−2.7)
    10. Facial dysmorphisms
    11. sleeping difficulties
    12. Behavioral abnormalities
    13. developmental delay
    14. FBXO11
    1. Hereditary protein C deficiency caused by compound heterozygousmutants in two independent Chinese families

      PMID: 25393254

      Gene: PROC

      Disease: Thrombophilia due to protein C deficiency

      MonDO: 0012860

      InheritancePattern: Autosomal Recessive

  2. Aug 2019
    1. Standard Operating Procedures

      To see Hypothes.is annotated notes on the SOP, click the hyperlink on the webpage titled "Gene-Disease Validity Standard Operating Procedures, Version 7"

    1. Lumbar gibbus
    2. disproportionate stature
    3. disproportionate stature
    4. disproportionate stature
    5. platyspondyly
    6. platyspondyly
    7. platyspondyly
    8. Lumbar gibbus
    9. disproportionate stature
    10. platyspondyly
    11. EXTL3
  3. May 2019
  4. Mar 2019
  5. Feb 2019
    1. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

      PMID: 28132690

      Gene: EXTL3

      Disease: Neuro-immuno-skeletal Dysplasia Syndrome

      MonDO: 0010668

      Inheritance Pattern: autosomal-recessive (maybe, check me on this, found 1st paragraph of results, but was unclear)

  6. Dec 2018
    1. HNF4A
  7. Nov 2018
    1. ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427942/

    2. ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427941/

    3. PLAA
  8. Aug 2018
    1. PPM1D
    1. EMC1
  9. Jul 2018
  10. Jun 2018
  11. Jul 2017