Disease

neurodevelopmental disorder with spasticity and poor growth

Definition

An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23.

Synonyms

NEDSG

Cross References

MIM:618076

Parent Terms

autosomal recessive intellectual developmental disorder

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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