FAZIO-LONDE DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs: BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD
Number of Symptoms 10
OrphanetNr:
OMIM Id: 211500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001349) Facial diplegia 16 / 7739
2
(HPO:0000508) Ptosis 459 / 7739
3
(HPO:0007034) Generalized hyperreflexia 33 / 7739
4
(HPO:0002015) Dysphagia 301 / 7739
5
(HPO:0009113) Diaphragmatic weakness 12 / 7739
6
(HPO:0005951) Progressive inspiratory stridor 1 / 7739
7
(HPO:0001283) Bulbar palsy 31 / 7739
8
(OMIM) Absent gag reflex 4 / 7739
9
(OMIM) Pyramidal tracts uninvolved 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).
Clinical Description OMIM Londe (1894) reported affected 5- and 6-year-old brothers whose parents were first cousins. Marinesco (1915) described it in a 12-year-old girl and her 8-year-old brother. Pyramidal tracts were not involved. Fazio's cases are said (Gomez et al., 1962) ...
Molecular genetics OMIM Bosch et al. (2011) identified a consanguineous family with 2 affected children who were found to be homozygous for a splice site mutation in the C20ORF54 gene (613350.0008). Spinal muscular atrophy (SMA; 253300) had been excluded by genetic ...