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Metadata
ID	DOID:0070680
PURL	http://purl.obolibrary.org/obo/DOID_0070680 Copy Copied!
Name	congenital hypomyelinating neuropathy 3
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. https://pmc.ncbi.nlm.nih.gov/articles/PMC5974240/, https://pmc.ncbi.nlm.nih.gov/articles/PMC6394372/, https://pmc.ncbi.nlm.nih.gov/articles/PMC12969965/
Xrefs	MIM:618186 UMLS_CUI:C4748608
SKOS	exactMatch UMLS_CUI:C4748608 exactMatch MIM:618186
Subsets	DO_rare_slim
Synonyms	CHN3 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital hypomyelinating neuropathy
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance