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Results: 1 to 20 of 21

1.

Autism

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). [from HPO]

MedGen UID:
504569
Concept ID:
CN000674
Finding
2.

Angelman syndrome-like

MedGen UID:
472054
Concept ID:
CN128785
Disease or Syndrome
3.

Autism spectrum disorders

Autism comprises a clinically heterogeneous group of disorders – collectively referred to as “autism spectrum disorders” (ASD) – that share common features of impaired social relationships, impaired language and communication, and repetitive behaviors or a narrow range of interests. For most children with autism, symptoms develop gradually, although approximately 30% have a "regressive" onset usually between ages 18 and 24 months. About 50%-70% of children with autism are identified as intellectually disabled by nonverbal IQ testing and approximately 25% develop seizures. Autism can be considered complex (i.e., presence of dysmorphic features and/or microcephaly) or essential (i.e., absence of physical abnormalities and microcephaly). About 25% of children who fit the diagnostic criteria for ASD at age two to three years subsequently begin to talk and communicate, and by age six to seven years blend to varying degrees into the regular school population. The remaining 75% have lifelong disability requiring intensive parental, school, and social support. [from GeneReviews]

MedGen UID:
307153
Concept ID:
C1510586
Mental or Behavioral Dysfunction
4.

Autistic disorder of childhood onset

Autism comprises a clinically heterogeneous group of disorders – collectively referred to as “autism spectrum disorders” (ASD) – that share common features of impaired social relationships, impaired language and communication, and repetitive behaviors or a narrow range of interests. For most children with autism, symptoms develop gradually, although approximately 30% have a "regressive" onset usually between ages 18 and 24 months. About 50%-70% of children with autism are identified as intellectually disabled by nonverbal IQ testing and approximately 25% develop seizures. Autism can be considered complex (i.e., presence of dysmorphic features and/or microcephaly) or essential (i.e., absence of physical abnormalities and microcephaly). About 25% of children who fit the diagnostic criteria for ASD at age two to three years subsequently begin to talk and communicate, and by age six to seven years blend to varying degrees into the regular school population. The remaining 75% have lifelong disability requiring intensive parental, school, and social support. [from GeneReviews]

MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
5.

Language Delay

MedGen UID:
9676
Concept ID:
C0023012
Mental or Behavioral Dysfunction
6.

Able

MedGen UID:
721424
Concept ID:
C1299581
Finding
7.

Gaze

MedGen UID:
639948
Concept ID:
C0553544
Finding
8.

Delayed speech and language development

A degree of language development that is significantly below the norm for a child of a specified age. [from HPO]

MedGen UID:
504583
Concept ID:
CN000706
Finding
9.

Fanconi anemia, complementation group E

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy. Physical abnormalities, present in 60%-75% of affected individuals, include one or more of the following: short stature; abnormal skin pigmentation; malformations of the thumbs, forearms, skeletal system, eyes, kidneys and urinary tract, ears (and decreased hearing), heart, gastrointestinal system, central nervous system; hypogonadism; and developmental delay. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%; the incidence of hematologic malignancies (primarily acute myeloid leukemia) 10%-30%; and of nonhematologic malignancies (solid tumors, particularly of the head and neck, skin, GI tract, and genital tract) 25%-30%. [from GeneReviews]

MedGen UID:
463628
Concept ID:
C3160739
Disease or Syndrome
10.

Feeling upset

A feeling of worry and unhappiness. [from NCI]

MedGen UID:
452692
Concept ID:
C0700361
Mental or Behavioral Dysfunction
11.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
12.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
13.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
14.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
15.

Mental Disorders Diagnosed in Childhood

Those psychiatric disorders usually first diagnosed in infancy, childhood, or adolescence. These disorders can also be first diagnosed during other life stages. [from MeSH]

MedGen UID:
101230
Concept ID:
C0525040
Mental or Behavioral Dysfunction
16.

Mental disorder

Mental disorders include a wide range of problems, including: -Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, and phobias. -Bipolar disorder. -Depression. -Mood disorders. -Personality disorders. -Psychotic disorders, including schizophrenia. There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. A traumatic brain injury can lead to a mental disorder. A mother's exposure to viruses or toxic chemicals while pregnant may play a part. Other factors may increase your risk, such as use of illegal drugs or having a serious medical condition like cancer. Medications and counseling can help many mental disorders. .  [from MedlinePlus]

MedGen UID:
14047
Concept ID:
C0004936
Mental or Behavioral Dysfunction
17.

Child Development Disorders, Pervasive

Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements. [from MeSH]

MedGen UID:
887
Concept ID:
C0008074
Mental or Behavioral Dysfunction
18.

Does not use verbal communication

MedGen UID:
649947
Concept ID:
C0566026
Finding
19.

Does use verbal communication

MedGen UID:
649946
Concept ID:
C0566025
Finding
20.

Family with school-aged children

MedGen UID:
642179
Concept ID:
C0557124
Finding

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