185 Matching Annotations
  1. Last 7 days
  2. Sep 2019
    1. Seizures
    2. 22 mo
    3. variant id lookup result

    4. constipation
    5. hairy elbows
    6. strabismus
    7. joint laxity
    8. fetal fingerpads
    9. mild hypertelorism
    10. long eyelashes
    11. mild exophthalmos
    12. broad forehead
    13. triangular face
    14. aggressivity
    15. no eye contact,
    16. social interaction
    17. autistic
    18. yes
    19. severe
    20. no speech
    21. 122 cm (−2.7)
    22. Facial dysmorphisms
    23. sleeping difficulties
    24. Behavioral abnormalities
    25. developmental delay
    26. 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

  3. 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
  4. May 2019
  5. Mar 2019
  6. 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)

  7. Dec 2018
    1. HNF4A
  8. 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
  9. Aug 2018
    1. PPM1D
    1. EMC1
  10. Jul 2018
  11. Jun 2018
  12. Jul 2017