Disease #01685

Official abbreviation BVVLS-1
Name Brown-Vialetto-Van Laere syndrome, type 1 (BVVLS-1)
OMIM ID 211530
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene SLC52A3
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00204615 - - - M - - European - 0 - - BVVLS-1 Progressive weakness, muscle wasting and truncal ataxia. Initial presentation: Multiple peripheral neuropathy SLC52A3 SLC52A3 2 1 -
00204616 - - - F - - European - 0 - - BVVLS-1 Anterior horn neuropathy; Intact cognitive development. Initial presentation: Progressive bulbar palsy SLC52A3 SLC52A3 1 1 -
00204617 - - - F - - Pakistani - 0 - - BVVLS-1 Progressive muscle weakness. Initial presntation: VII nerve palsy, deafness SLC52A3 SLC52A3 1 1 -
00204618 - - - F - - Pakistani - 0 - - BVVLS-1 Poor balance, proximal muscle group weakness. Initial presentation: Deafness, Tongue wasting and fasciculations SLC52A3 SLC52A3 1 1 -
00204619 - - - M - - European/Asian - 0 - - BVVLS-1 Multiple cranial nerve involvement. Initial presentation: Breathing problems SLC52A3 SLC52A3 1 1 -
00204620 - - - F - - Pakistani - 0 - - BVVLS-1 Progressive muscle weakness and wasting, external ophthalmoplegia. Initial presentation: Tongue fasciculations, facial palsy SLC52A3 SLC52A3 1 1 -
00204621 - - - M - - Arabic - 0 - - BVVLS-1 Hypotonia, cerebellar signs, brisk reflexes in lower limbs, persistent ankle clonus, stridor, EMG: bulbar palsy, anterior horn involvement; phrenic nerve denervation, auditory neuropathy. Initial presentation: Sub-acute encephalopathy SLC52A3 SLC52A3 2 1 -
00204622 - - - M - - Arabic - 0 - - BVVLS-1 Hypotonia, bulbar palsy, respiratory difficulties. Initial Presentation: Hypotonia, bulbar palsy SLC52A3 SLC52A3 2 1 -
00204625 - - - F - - European - 0 - - BVVLS-1 General weakness, flaccid. Initial presentation: Breathing difficulties, weakness SLC52A3 SLC52A3 1 1 -
00207500 12336-Pat1 - 2 affecteds F yes - - >10y 0 - - BVVLS-1 visual impairment (HP:0000505) hearing impairment (HP:0000365) no abnormality of the liver (-HP:0001392) ATP7B ATP7B, SLC52A3 2 2 Gunnar Schmidt
00207521 12336-Pat2 - - M yes - - - 0 - - BVVLS-1 Visual impairment (HP:0000505) Hearing impairment (HP:0000365) - ATP7B, SLC52A3 2 1 Gunnar Schmidt
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