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Results: 8

1.

autism

MedGen UID:
833591
Concept ID:
CN229531
Disease or Syndrome
2.

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
3.

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
4.

Autistic behavior

A disorder beginning 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:
504575
Concept ID:
CN000686
Finding
5.

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
6.

Atrial septal defect

defect in the wall between the lower chambers of the heart [from CHV]

MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
7.

Autism 15

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850. [from OMIM]

MedGen UID:
394302
Concept ID:
C2677504
Finding
8.

Autism 5

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850. [from OMIM]

MedGen UID:
340048
Concept ID:
C1853755
Disease or Syndrome

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