Disease

spastic tetraplegia, thin corpus callosum, and progressive microcephaly

Definition

An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14.

Synonyms

SPATCCM

Cross References

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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