Brachytelephalangic chondrodysplasia punctata

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 79345
OMIM Id: 302950
602497
ICD-10: Q77.3
UMLs: C1844853
MeSH: C535941
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Non-rhizomelic chondrodysplasia punctata
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Other metabolic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000135) Hypogonadism 89 / 7739
2
 (HPO:0000420) Short nasal septum 4 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000458) Anosmia 49 / 7739
5
 (HPO:0003196) Short nose 264 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0000518) Cataract 454 / 7739
8
 (HPO:0000365) Hearing impairment 539 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
11
 (HPO:0000925) Abnormality of the vertebral column 20 / 7739
12
 (HPO:0010655) Epiphyseal stippling 32 / 7739
13
 (HPO:0004322) Short stature 1232 / 7739
14
 (HPO:0008064) Ichthyosis 108 / 7739
15
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: