219 Matching Annotations
  1. Last 7 days
    1. hypertrophy of slow fibres
    2. fibre degeneration
    3. interstitial fibrosis
    4. hypertrophy of Type 1 (slow) fibres
    5. nemaline rods
    6. selective and marked atrophy of Type 2 (fast) fibres
    7. nasogastric tube feedin
    8. bulbar weakness
    9. non-invasive ventilation
    10. respiratory muscle weakness
    11. thoracic scoliosis
    12. thoracic scoliosis
    13. bilateral hip dislocation
    14. finger contractures
    15. knee contractures
    16. high arched palate
    17. hypotonia
    18. limb muscles
    19. weakness of facial
    20. rocker-bottom
    21. bilateral talipes
    22. overlapping digits
    23. overlapping digits
    24. polyhydramnios
    25. TNNT3
  2. Oct 2019
  3. Sep 2019
    1. allele id lookup result

    2. variant id lookup result

    3. variant id lookup result

    4. Seizures
    5. 22 mo
    6. variant id lookup result

    7. constipation
    8. hairy elbows
    9. strabismus
    10. joint laxity
    11. fetal fingerpads
    12. mild hypertelorism
    13. long eyelashes
    14. mild exophthalmos
    15. broad forehead
    16. triangular face
    17. aggressivity
    18. no eye contact,
    19. social interaction
    20. autistic
    21. yes
    22. severe
    23. no speech
    24. 122 cm (−2.7)
    25. Facial dysmorphisms
    26. sleeping difficulties
    27. Behavioral abnormalities
    28. developmental delay
    29. 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

  4. 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
  5. May 2019
  6. Mar 2019
  7. 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)

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