From HPO
Glutaric aciduria- MedGen UID:
- 75695
- •Concept ID:
- C0268594
- •
- Disease or Syndrome
The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.
D-2-hydroxyglutaric aciduria- MedGen UID:
- 322192
- •Concept ID:
- C1833429
- •
- Disease or Syndrome
An increased concentration of 2-hydroxyglutaric acid in the urine.
Aortic regurgitation- MedGen UID:
- 8153
- •Concept ID:
- C0003504
- •
- Disease or Syndrome
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Cardiomyopathy- MedGen UID:
- 209232
- •Concept ID:
- C0878544
- •
- Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Episodic vomiting- MedGen UID:
- 333228
- •Concept ID:
- C1838993
- •
- Finding
Paroxysmal, recurrent episodes of vomiting.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Tonic seizure- MedGen UID:
- 82855
- •Concept ID:
- C0270844
- •
- Disease or Syndrome
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
Bilateral tonic-clonic seizure- MedGen UID:
- 141670
- •Concept ID:
- C0494475
- •
- Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
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.
Hypsarrhythmia- MedGen UID:
- 195766
- •Concept ID:
- C0684276
- •
- Finding
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Subependymal cysts- MedGen UID:
- 318876
- •Concept ID:
- C1833431
- •
- Anatomical Abnormality
Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.
Multifocal cerebral white matter abnormalities- MedGen UID:
- 371562
- •Concept ID:
- C1833434
- •
- Finding
Infantile encephalopathy- MedGen UID:
- 343542
- •Concept ID:
- C1856408
- •
- Finding
Encephalopathy with onset in the infantile period.
Lateral ventricle dilatation- MedGen UID:
- 383904
- •Concept ID:
- C1856409
- •
- Pathologic Function
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Infantile spasms- MedGen UID:
- 854616
- •Concept ID:
- C3887898
- •
- Disease or Syndrome
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Delayed CNS myelination- MedGen UID:
- 867393
- •Concept ID:
- C4021758
- •
- Anatomical Abnormality
Delayed myelination in the central nervous system.
Myoclonic seizure- MedGen UID:
- 1385980
- •Concept ID:
- C4317123
- •
- Sign or Symptom
A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
Elevated CSF D-2-hydroxyglutaric acid concentration- MedGen UID:
- 1052927
- •Concept ID:
- CN376759
- •
- Finding
The concentration of D-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Macrocephaly- MedGen UID:
- 745757
- •Concept ID:
- C2243051
- •
- Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Apnea- MedGen UID:
- 2009
- •Concept ID:
- C0003578
- •
- Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Inspiratory stridor- MedGen UID:
- 146165
- •Concept ID:
- C0677600
- •
- Sign or Symptom
Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.
Prominent forehead- MedGen UID:
- 373291
- •Concept ID:
- C1837260
- •
- Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Cerebral visual impairment- MedGen UID:
- 890568
- •Concept ID:
- C4048268
- •
- Pathologic Function
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system