Term Name:	congenital hypomyelinating neuropathy 3
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.
Ontology:	Human Disease [DOID:0070680]   ( DOID:0070680 )