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GTR Home > Conditions/Phenotypes > Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Synonyms
GAND SYNDROME
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

GAND syndrome is a neurodevelopmental syndrome characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development. Most patients have poor speech acquisition, especially expressive language development, and may manifest signs of speech apraxia. Affected individuals have hypotonia and feeding difficulties in infancy, as well as common dysmorphic features, such as macrocephaly, frontal bossing, hypertelorism, deep-set eyes, posteriorly rotated ears, and elongated wide nose with prominent nasal tip. More variable features may include seizures, cardiac abnormalities, and nonspecific findings on brain imaging (summary by Shieh et al., 2020). [from OMIM]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GANDS, MRD18, P66beta, p68, GATAD2B
    Summary: GATA zinc finger domain containing 2B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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