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GTR Home > Conditions/Phenotypes > Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

Synonyms
ASNS DEFICIENCY; Asparagine synthetase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Asparagine Synthetase Deficiency
Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the clinician in differentiating this disorder from others. In most cases age of onset of apnea, excessive irritability, and seizures is soon after birth. Affected individuals typically do not acquire any developmental milestones. Spastic quadriplegia can lead to severe contractures of the limbs and neurogenic scoliosis. Feeding difficulties (gastroesophageal reflux disease, frequent vomiting, swallowing dysfunction, and gastroesophageal incoordination) are a significant problem in most affected individuals. A majority have cortical blindness. MRI findings are nonspecific but may include generalized atrophy and simplified gyral pattern.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Majid Alfadhel
Ayman W El-Hattab
view full author information

Available tests

45 tests are in the database for this condition.

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Clinical tests (45 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ASNSD, TS11, ASNS
    Summary: asparagine synthetase (glutamine-hydrolyzing)

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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