From HPO
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Chronic constipation- MedGen UID:
- 98325
- •Concept ID:
- C0401149
- •
- Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability, severe- MedGen UID:
- 48638
- •Concept ID:
- C0036857
- •
- Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Sleep disturbance- MedGen UID:
- 52372
- •Concept ID:
- C0037317
- •
- Sign or Symptom
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Self-injurious behavior- MedGen UID:
- 88371
- •Concept ID:
- C0085271
- •
- Individual Behavior
Aggression towards oneself.
Absent speech- MedGen UID:
- 340737
- •Concept ID:
- C1854882
- •
- Finding
Complete lack of development of speech and language abilities.
Interictal epileptiform activity- MedGen UID:
- 869073
- •Concept ID:
- C4023491
- •
- Finding
Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.
Delayed fine motor development- MedGen UID:
- 869257
- •Concept ID:
- C4023681
- •
- Finding
A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.
Precocious puberty in females- MedGen UID:
- 543449
- •Concept ID:
- C0271616
- •
- Disease or Syndrome
The onset of puberty before the age of 8 years in girls.
Exodeviation- MedGen UID:
- 1637525
- •Concept ID:
- C4551670
- •
- Disease or Syndrome
A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the nervous system