Trichotillomania- MedGen UID:
- 21654
- •Concept ID:
- C0040953
- •
- Mental or Behavioral Dysfunction
Trichotillomania (TTM) is a neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. The activity causes distress to the individual and often interferes with functioning. Affected individuals may develop physical complications and often have overlapping psychologic disorders, such as Tourette syndrome (GTS; 137580) or obsessive-compulsive disorder (OCD; 164230) (review by Novak et al., 2009).
Intellectual disability, autosomal dominant 38- MedGen UID:
- 895359
- •Concept ID:
- C4225343
- •
- Mental or Behavioral Dysfunction
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities- MedGen UID:
- 1841073
- •Concept ID:
- C5830437
- •
- Mental or Behavioral Dysfunction
Autosomal dominant intellectual developmental disorder-71 with behavioral abnormalities (MRD71) is a neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development. Almost all affected individuals show marked behavioral manifestations, including autism spectrum disorder (ASD), ADHD, hypersensitivity, and aggression. Many have dysmorphic features, although there is not a common gestalt (Harris et al., 2021).
Cornelia de Lange syndrome 6- MedGen UID:
- 1848930
- •Concept ID:
- C5882712
- •
- Disease or Syndrome
Cornelia de Lange syndrome (CDLS) is a genetically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (608667) (summary by Musio et al., 2006 and Hoppman-Chaney et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see CDLS1 (122470).