Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
Autosomal recessive
8q24.3
Brown-Vialetto-Van Laere Syndrome 2 is a rare, progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
Mutations in the Riboflavin Transporter gene SLC52A2 are rsponsible for the condition.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614707.1.1 | Lebanon | Male | Yes | Yes | Severe sensorineural hearing impairment;... Severe sensorineural hearing impairment; Tongue fasciculations; Bulbar palsy; Hypotonia; Progressive distal muscular atrophy;  | NM_024531.4:c.916G>A | Homozygous | Autosomal, Recessive | Mégarbané et al, 2000; Johnson et al, 2012 | |
| 614707.1.2 | Lebanon | Male | Yes | Yes | Cranial nerve paralysis; Nystagmus; Hy... Cranial nerve paralysis; Nystagmus; Hypotonia; Kyphoscoliosis; Sensorineural hearing impairment ; | NM_024531.4:c.916G>A | Homozygous | Autosomal, Recessive | Mégarbané et al, 2000; Johnson et al, 2012 | Brother of 614707.1.... |
| 614707.1.3 | Lebanon | Female | Yes | Yes | Cranial nerve paralysis; Nystagmus; Hy... Cranial nerve paralysis; Nystagmus; Hypotonia; Kyphoscoliosis; Sensorineural hearing impairment ; | NM_024531.4:c.916G>A | Homozygous | Autosomal, Recessive | Mégarbané et al, 2000; Johnson et al, 2012 | Sister of 614707.1.1 |
| 614707.1.4 | Lebanon | Male | Yes | Yes | Hypotonia; Sensorineural hearing impair... Hypotonia; Sensorineural hearing impairment ; | NM_024531.4:c.916G>A | Homozygous | Autosomal, Recessive | Mégarbané et al, 2000; Johnson et al, 2012 | First cousin of 6147... |
| 614707.2.1 | Lebanon | Female | Yes | Yes | Gait ataxia; Hypotonia; Areflexia; se... Gait ataxia; Hypotonia; Areflexia; sensorineural hearing impairment; Sensory axonal neuropathy ; | NM_024531.4:c.916G>A, NM_024531.4:c.419C>T | Homozygous | Autosomal, Recessive | Srour et al, 2014 | |
| 614707.2.2 | Lebanon | Male | Yes | Yes | Gait ataxia; Hypotonia; Areflexia; Se... Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy ; | NM_024531.4:c.916G>A, NM_024531.4:c.419C>T | Homozygous | Autosomal, Recessive | Srour et al, 2014 | Bother of 614707.2.1 |
| 614707.2.3 | Lebanon | Female | Yes | Yes | Gait ataxia; Hypotonia; Areflexia; Se... Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy ; | NM_024531.4:c.916G>A, NM_024531.4:c.419C>T | Homozygous | Autosomal, Recessive | Srour et al, 2014 | First cousin of 6147... |
| 614707.2.4 | Lebanon | Male | Yes | Yes | Gait ataxia; Hypotonia; Areflexia; Se... Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy | NM_024531.4:c.916G>A, NM_024531.4:c.419C>T | Homozygous | Autosomal, Recessive | Srour et al, 2014 | First cousin of 6147... |
| 614707.2.5 | Lebanon | Male | Yes | Yes | Gait ataxia; Hypotonia; Areflexia; Se... Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy | NM_024531.4:c.916G>A, NM_024531.4:c.419C>T | Homozygous | Autosomal, Recessive | Srour et al, 2014 | First cousin of 6147... |