Congenital muscular dystrophy - infantile cataract - hypogonadism

General Information (adopted from Orphanet):

Synonyms, Signs: Bassoe syndrome
Number of Symptoms 20
OrphanetNr: 1875
OMIM Id: 254000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000135) Hypogonadism 89 / 7739
2
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
3
 (HPO:0000137) Abnormality of the ovary Very frequent [Orphanet] 41 / 7739
4
 (HPO:0000298) Mask-like facies Very frequent [Orphanet] 44 / 7739
5
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
6
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
7
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
8
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
9
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
10
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
11
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
12
 (HPO:0002967) Cubitus valgus Frequent [Orphanet] 49 / 7739
13
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
14
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
15
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
16
 (HPO:0003741) Congenital muscular dystrophy 22 / 7739
17
 (MedDRA:10033120) Ovarian agenesis 1 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (MedDRA:10023463) Klinefelter's syndrome 1 / 7739
20
 (OMIM) Cataracts, infantile 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: