From HPO
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Round ear- MedGen UID:
- 867574
- •Concept ID:
- C4021959
- •
- Anatomical Abnormality
Polyneuropathy- MedGen UID:
- 57502
- •Concept ID:
- C0152025
- •
- Disease or Syndrome
A generalized disorder of peripheral nerves.
Autistic behavior- MedGen UID:
- 163547
- •Concept ID:
- C0856975
- •
- Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Severe global developmental delay- MedGen UID:
- 332436
- •Concept ID:
- C1837397
- •
- Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Moderate global developmental delay- MedGen UID:
- 500807
- •Concept ID:
- C2237142
- •
- Finding
A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.
Malar flattening- MedGen UID:
- 347616
- •Concept ID:
- C1858085
- •
- Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Prominent supraorbital ridges- MedGen UID:
- 333982
- •Concept ID:
- C1842060
- •
- Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Short philtrum- MedGen UID:
- 350006
- •Concept ID:
- C1861324
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Sunken cheeks- MedGen UID:
- 869726
- •Concept ID:
- C4024154
- •
- Finding
Lack or loss of the soft tissues between the zygomata and mandible.
Subcutaneous calcification- MedGen UID:
- 120484
- •Concept ID:
- C0263625
- •
- Disease or Syndrome
Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).
Synophrys- MedGen UID:
- 98132
- •Concept ID:
- C0431447
- •
- Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Developmental cataract- MedGen UID:
- 3202
- •Concept ID:
- C0009691
- •
- Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
- Abnormality of head or neck
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation