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Items: 6

1.

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies

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. [from GeneReviews]

MedGen UID:
1674629
Concept ID:
C5193125
Disease or Syndrome
2.

Intellectual disability, autosomal dominant 10

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene. [from MONDO]

MedGen UID:
481914
Concept ID:
C3280284
Mental or Behavioral Dysfunction
3.

TELO2-related intellectual disability-neurodevelopmental disorder

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. [from SNOMEDCT_US]

MedGen UID:
934745
Concept ID:
C4310778
Disease or Syndrome
4.

Neurodevelopmental disorder with seizures and speech and walking impairment

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). [from OMIM]

MedGen UID:
1672912
Concept ID:
C5193119
Disease or Syndrome
5.

Facial palsy, congenital, with ptosis and velopharyngeal dysfunction

MedGen UID:
1623077
Concept ID:
C4540277
Disease or Syndrome
6.

Brain imaging abnormality

An anomaly of metabolism or structure of the brain identified by imaging. [from HPO]

MedGen UID:
751376
Concept ID:
C2711610
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