Intellectual disability, autosomal dominant 10- MedGen UID:
- 481914
- •Concept ID:
- C3280284
- •
- Mental or Behavioral Dysfunction
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.
TELO2-related intellectual disability-neurodevelopmental disorder- MedGen UID:
- 934745
- •Concept ID:
- C4310778
- •
- Disease or Syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder and impaired balance. Variable manifestations include hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern and seizures.
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction- MedGen UID:
- 1623077
- •Concept ID:
- C4540277
- •
- Disease or Syndrome
Neurodevelopmental disorder with seizures and speech and walking impairment- MedGen UID:
- 1672912
- •Concept ID:
- C5193119
- •
- Disease or Syndrome
Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) is an autosomal recessive disorder with onset in infancy. Patients show global developmental delay, particularly of speech acquisition, as well as walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Other features include seizures, mild dysmorphic features, and variable short stature. The pregnancies tend to be complicated by hyper- or hypotension (summary by Ganapathi et al., 2019).
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies- MedGen UID:
- 1674629
- •Concept ID:
- C5193125
- •
- Disease or Syndrome
ATN1-related neurodevelopmental disorder (ATN1-NDD) is characterized by developmental delay / intellectual disability. Other neurologic findings can include infantile hypotonia, brain malformations, epilepsy, cortical visual impairment, and hearing loss. Feeding difficulties, present in some individuals, may require gastrostomy support when severe; similarly, respiratory issues, present in some, may require respiratory support after the neonatal period. Distinctive facial features and hand and foot differences are common. Other variable findings can include cardiac malformations and congenital anomalies of the kidney and urinary tract (CAKUT). To date, 18 individuals with ATN1-NDD have been identified.