Intellectual disability, autosomal dominant 42- MedGen UID:
- 934741
- •Concept ID:
- C4310774
- •
- Mental or Behavioral Dysfunction
GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.
Intellectual disability, autosomal dominant 53- MedGen UID:
- 1623344
- •Concept ID:
- C4540481
- •
- Mental or Behavioral Dysfunction
Myopathy, congenital, progressive, with scoliosis- MedGen UID:
- 1684769
- •Concept ID:
- C5231417
- •
- Disease or Syndrome
Congenital myopathy-19 (CMYP19) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features (Feichtinger et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).