From HPO
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Dyskinesia- MedGen UID:
- 8514
- •Concept ID:
- C0013384
- •
- Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Choreoathetosis- MedGen UID:
- 39313
- •Concept ID:
- C0085583
- •
- Disease or Syndrome
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Abnormal pyramidal sign- MedGen UID:
- 68582
- •Concept ID:
- C0234132
- •
- Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Lower limb spasticity- MedGen UID:
- 220865
- •Concept ID:
- C1271100
- •
- Finding
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
Reduced eye contact- MedGen UID:
- 303190
- •Concept ID:
- C1445953
- •
- Finding
Difficulty in looking at another person in the eye.
Poor speech- MedGen UID:
- 341172
- •Concept ID:
- C1848207
- •
- Finding
Poor head control- MedGen UID:
- 322809
- •Concept ID:
- C1836038
- •
- Finding
Difficulty to maintain correct position of the head while standing or sitting.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Hyper-beta-alaninemia- MedGen UID:
- 75702
- •Concept ID:
- C0268630
- •
- Disease or Syndrome
An increased concentration of alanine in the blood.
Increased serum lactate- MedGen UID:
- 332209
- •Concept ID:
- C1836440
- •
- Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Optic atrophy- MedGen UID:
- 18180
- •Concept ID:
- C0029124
- •
- Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Abnormality of eye movement- MedGen UID:
- 99227
- •Concept ID:
- C0497202
- •
- Finding
An abnormality in voluntary or involuntary eye movements or their control.
Optic neuropathy- MedGen UID:
- 854546
- •Concept ID:
- C3887709
- •
- Disease or Syndrome
Disorder of the optic nerve.
- Abnormality of metabolism/homeostasis
- Abnormality of the ear
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality