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Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus(ETINPH)

MedGen UID:
394839
Concept ID:
C2678494
Disease or Syndrome
Synonym: ETINPH
 
Monarch Initiative: MONDO:0012732
OMIM®: 611808

Clinical features

From HPO
Normal pressure hydrocephalus
MedGen UID:
42526
Concept ID:
C0020258
Disease or Syndrome
Normal-pressure hydrocephalus-1 (HYDNP1) is an autosomal dominant neurologic disorder characterized by the clinical triad of slowly progressive gait instability, urinary incontinence, and cognitive decline associated with ventricular enlargement on brain imaging with normal pressure of the cerebrospinal fluid (CSF). The onset of symptoms is usually in late adulthood; the symptoms are responsive to shunting. The disorder has been associated with recurrent respiratory infections and possible infertility issues, but the latter has not been confirmed (summary by Takahashi et al., 2011 and Morimoto et al., 2019).
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Kinetic tremor
MedGen UID:
1638576
Concept ID:
C4551521
Sign or Symptom
Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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