128 Matching Annotations
  1. Jan 2020
    1. Hyperphagia
    2. Feeding difficulty
    3. narrow palate
    4. Anteverted nares
    5. Short nose
    6. Depressed nasal ridge
    7. Depressed nasal bridg
    8. Low-set ears
    9. Posteriorly rotated ears
    10. Widely spaced eyes
    11. High, arched eyebrow
    12. Thick eyebrow
    13. Flat face
    14. Prominent forehead
    15. dolichocephaly
    16. Speech impairment
    17. Developmental delay
    1. Arachnodactyly
    2. Camptodactyly
    3. Joint laxity
    4. Slender limbs
    5. Pectus
    6. Pectus
    7. Scoliosis
    8. Tall stature
    9. atrial septal defect
    10. large ears
    11. Open mouth appearance
    12. Short philtrum
    13. Long face
    14. Hypotonia
    15. intellectual disability
    16. Developmental delay
    1. 1
    2. 1
    3. 1
    4. 1
    5. 1
    6. 1
    7. muscular hypotonia
    8. motor development
    9. speech and language development
    10. developmental delay
  2. Dec 2019
    1. acute respiratory failure
    2. +
    3. Platyspondyly
    4. +
    5. +
    6. Splenomegaly
    7. <3rd percentile
    8. elevated methionine
    9. talipes equinovarus
    10. Neonatal jaundice
    1. appendicular spasticity
    2. could not verbalize
    3. lost voluntary mobility
    4. bilateral nonsynchronous spikes
    5. short non-provoked generalized tonic-clonic seizures
    6. intractable epilepsy
    7. ataxia
  3. Nov 2019
    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
  4. Oct 2019
  5. Sep 2019
    1. variant id lookup result

    2. constipation
    3. hairy elbows
    4. strabismus
    5. joint laxity
    6. fetal fingerpads
    7. mild hypertelorism
    8. long eyelashes
    9. mild exophthalmos
    10. broad forehead
    11. triangular face
    12. aggressivity
    13. no eye contact,
    14. social interaction
    15. autistic
    16. yes
    17. severe
    18. no speech
    19. 122 cm (−2.7)