Search Ontology:
Human Disease

congenital hypomyelinating neuropathy 3

Term ID
DOID:0070680
Synonyms
  • CHN3
Definition
A congenital hypomyelinating neuropathy characterized by polyhydramnios, severe hypotonia, profoundly impaired psychomotor development, severely decreased nerve conduction properties, hypomyelination, and cerebral and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CNTNAP1 gene on chromosome 17q21. Contractures may also manifest. (3)
References
Ontology
Human Disease   ( DOID:0070680 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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