Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 91133
OMIM Id:
ICD-10: Q87.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
X-linked recessive inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
2
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
3
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
4
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
5
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
7
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
8
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
9
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
10
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
11
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: