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Results: 11

1.

Deficiency of alpha-mannosidase

Alpha-mannosidosis encompasses a continuum of clinical findings from mild to severe. Three clinical subtypes include: A mild form recognized after age ten years with absence of skeletal abnormalities, myopathy, and slow progression (type 1); A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression (type 2); and A severe form manifested as prenatal loss or early death from progressive central nervous system involvement (type 3). Individuals with a milder phenotype have mild-to-moderate intellectual disability, impaired hearing, characteristic coarse features, clinical or radiographic skeletal abnormalities, immunodeficiency, and primary central nervous system disease, mainly cerebellar involvement causing ataxia. Periods of psychiatric symptoms are common. Associated medical problems can include corneal opacities, hepatosplenomegaly, aseptic destructive arthritis, and metabolic myopathy. Alpha-mannosidosis is insidiously progressive; some individuals may live into the sixth decade. [from GeneReviews]

MedGen UID:
7467
Concept ID:
C0024748
Disease or Syndrome
2.

Immunodeficiency

MedGen UID:
505335
Concept ID:
CN002471
Finding
3.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
4.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
5.

Intellectual functioning disability

A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. [from NCI]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
6.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
7.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
8.

Mental retardation, autosomal recessive 13

MedGen UID:
442564
Concept ID:
C2750791
Disease or Syndrome
9.

Mental retardation, autosomal recessive 1

MedGen UID:
344468
Concept ID:
C1855304
Disease or Syndrome
10.

Mental retardation, autosomal recessive 43

MedGen UID:
786087
Concept ID:
CN188213
Disease or Syndrome
11.

Hyperphosphatasia with mental retardation syndrome 3

Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300). [from OMIM]

MedGen UID:
481783
Concept ID:
C3280153
Disease or Syndrome

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