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Items: 12

1.

Memory impairment

MedGen UID:
68579
Concept ID:
C0233794
Mental or Behavioral Dysfunction
2.

AS 2

MedGen UID:
46790
Concept ID:
C0104281
Organic Chemical; Pharmacologic Substance
3.

Hyperactivity

MedGen UID:
98406
Concept ID:
C0424295
Finding; Mental or Behavioral Dysfunction
4.

Mucopolysaccharidosis, MPS-I-H/S

Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap; thus, affected individuals are best described as having either severe or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory-tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal. By age three years, linear growth decreases. Intellectual disability is progressive and profound. Hearing loss is common. Death, typically caused by cardiorespiratory failure, usually occurs within the first ten years of life. Attenuated MPS I. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decades to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities can be present. Clinical onset is usually between ages three and ten years. Hearing loss and cardiac valvular disease are common. [from GeneReviews]

MedGen UID:
88566
Concept ID:
C0086431
Disease or Syndrome
5.

Mucopolysaccharidosis, MPS-I-S

Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap; thus, affected individuals are best described as having either severe or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory-tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal. By age three years, linear growth decreases. Intellectual disability is progressive and profound. Hearing loss is common. Death, typically caused by cardiorespiratory failure, usually occurs within the first ten years of life. Attenuated MPS I. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decades to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities can be present. Clinical onset is usually between ages three and ten years. Hearing loss and cardiac valvular disease are common. [from GeneReviews]

MedGen UID:
6453
Concept ID:
C0026708
Disease or Syndrome
6.

Acoustic reflex finding

MedGen UID:
753770
Concept ID:
C2919462
Finding
7.

Moro reflex finding

MedGen UID:
710121
Concept ID:
C1287662
Finding
8.

Visual short-term memory performance - finding

MedGen UID:
709893
Concept ID:
C1287429
Finding
9.

Short-term memory performance - finding

MedGen UID:
709872
Concept ID:
C1287405
Finding
10.

Finding of visual field

MedGen UID:
662067
Concept ID:
C0578654
Finding
11.

Normal hematology finding

MedGen UID:
634506
Concept ID:
C0475181
Finding
12.

Anxiety about behavior or performance

MedGen UID:
633899
Concept ID:
C0474385
Finding
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