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neurodevelopmental disorder with hypotonia, neuropathy, and deafness

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive congenital myopathy characterized by hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy.
Mondo Term and Equivalent IDs
MONDO:0060496:  neurodevelopmental disorder with hypotonia, neuropathy, and deafness
UMLS:C4479603: