riboflavin transporter deficiency
A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
MONDO:0016114
obsolete bulbospinal muscular atrophy of childhood (obsolete MONDO:0016114)
excluded_subClassOf
MONDO:0019589
obsolete syndromic genetic hearing loss (obsolete MONDO:0019589)
excluded_subClassOf
MONDO:0024257
hereditary motor neuron disease
is_a
BVVLS
related
BVVLS1
related
Brown-Vialetto-Van Laere syndrome 1
narrow
Brown-Vialetto-van Laere syndrome
exact
Fazio-Londe syndrome
exact
disorder of riboflavin transmembrane transporter activity
exact
pontobulbar palsy and neurosensory deafness
related
progressive bulbar palsy with sensorineural deafness
related
riboflavin transmembrane transporter activity disease
exact
sensorineural hearing loss-pontobulbar palsy syndrome
exact