EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: EHLERS-DANLOS SYNDROME WITH MENTAL RETARDATION, DEAFNESS, AND CATARACT
Number of Symptoms 18
OrphanetNr:
OMIM Id: 608763
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:0000275) Narrow face 76 / 7739
2
 (HPO:0007633) Bilateral microphthalmos 13 / 7739
3
 (HPO:0000518) Cataract 454 / 7739
4
 (HPO:0000365) Hearing impairment 539 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0002816) Genu recurvatum 30 / 7739
7
 (HPO:0002827) Hip dislocation 94 / 7739
8
 (HPO:0001388) Joint laxity 117 / 7739
9
 (HPO:0001382) Joint hypermobility 231 / 7739
10
 (HPO:0005692) Joint hyperflexibility 20 / 7739
11
 (HPO:0001763) Pes planus 176 / 7739
12
 (HPO:0000023) Inguinal hernia 181 / 7739
13
 (HPO:0000974) Hyperextensible skin 59 / 7739
14
 (HPO:0001073) Cigarette-paper scars 7 / 7739
15
 (HPO:0007407) Excessive skin wrinkling on dorsum of hands and fingers 1 / 7739
16
 (HPO:0003199) Decreased muscle mass 27 / 7739
17
 (OMIM) Small eyes 3 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: