| HPO |
HP:0012749 |
Focal T2 hypointense brainstem lesion |
"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem." [UToronto:htrang] |
— |
HP:0012747 |
| HPO |
HP:0012750 |
T2 hypointense brainstem |
"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem." [UToronto:htrang] |
— |
HP:0012747 |
| HPO |
HP:0012751 |
Abnormal basal ganglia MRI signal intensity |
"A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia." [UToronto:htrang] |
— |
HP:0002134 |
| HPO |
HP:0012752 |
Focal T2 hypointense basal ganglia lesion |
"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia." [HPO:probinson] |
— |
HP:0012751 |
| HPO |
HP:0012753 |
T2 hypointense basal ganglia |
"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia." [HPO:probinson] |
— |
HP:0012751 |
| HPO |
HP:0012754 |
CNS hypermyelination |
"Increased amount of myelin in the central nervous system." [UToronto:htrang] |
— |
HP:0011400 |
| HPO |
HP:0012755 |
Enlarged brainstem |
"Abnormal increase in size of the brainstem." [UToronto:htrang] |
An enlarged brainstem may be observed with diffuse infiltrating tumor, PNET (primitive neuroectodermal tumor), ganglionoma, hamartoma, vascular malformation, or inflammatory process. |
HP:0002363 |
| HPO |
HP:0012756 |
CSF polymorphonuclear pleocytosis |
"An increased polymorphonuclear cell count in the cerebrospinal fluid." [KI:phemming] |
— |
HP:0012229 |
| HPO |
HP:0012757 |
Abnormal neuron morphology |
"A structural anomaly of a neuron." [KI:phemming] |
— |
HP:0012639 |
| HPO |
HP:0012758 |
Neurodevelopmental delay |
— |
— |
HP:0012759 |
| HPO |
HP:0012759 |
Neurodevelopmental abnormality |
"A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities." [KI:phemming] |
This term should be used to describe abnormalities with onset in the developmental period. |
HP:0012638 |
| HPO |
HP:0012760 |
Impaired social reciprocity |
"A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first." [KI:phemming] |
— |
HP:0012433 |
| HPO |
HP:0012761 |
Absent mastoid |
"A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent." [HPO:probinson] |
— |
HP:0000264 |
| HPO |
HP:0012762 |
Cerebral white matter atrophy |
"The presence of atrophy (wasting) of the cerebral white matter." [UToronto:htrang] |
— |
HP:0002500 |
| HPO |
HP:0012763 |
Paroxysmal dyspnea |
"A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson] |
Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position. |
HP:0002094 |
| HPO |
HP:0012764 |
Orthopnea |
"A sensation of breathlessness in the recumbent position, relieved by sitting or standing." [UToronto:htrang] |
— |
HP:0002094 |
| HPO |
HP:0012765 |
Widened cerebellar subarachnoid space |
"An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum." [UToronto:htrang] |
— |
HP:0012704 |
| HPO |
HP:0012766 |
Widened cerebral subarachnoid space |
"An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum." [UToronto:htrang] |
— |
HP:0012704 |
| HPO |
HP:0012767 |
Abnormal placental size |
"A deviation from normal size of the placenta." [HPO:probinson] |
— |
HP:0100767 |
| HPO |
HP:0012768 |
Neonatal asphyxia |
"Respiratory failure in the newborn." [HPO:probinson] |
— |
HP:0002643 |
| HPO |
HP:0012769 |
Abnormal arm span |
"A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)" [HPO:probinson] |
— |
HP:0002817 |
| HPO |
HP:0012770 |
Reduced arm span |
"Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [HPO:probinson] |
— |
HP:0012769 |
| HPO |
HP:0012771 |
Increased arm span |
"Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [HPO:probinson] |
— |
HP:0012769 |
| HPO |
HP:0012772 |
Abnormal upper to lower segment ratio |
"A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson] |
— |
HP:0000002 |
| HPO |
HP:0012773 |
Reduced upper to lower segment ratio |
"Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present." [HPO:probinson] |
A ratio of less than 0.86 (or according to other sources 0.89) is considered abnormally reduced. |
HP:0012772 |