Disease #04062 (BBSOAS (Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)), OMIM:615722)
Official abbreviation |
BBSOAS |
Name |
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) |
OMIM ID |
615722 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal dominant |
Individuals reported having this disease |
18 |
Phenotype entries for this disease |
17 |
Associated with 1 gene |
NR2F1 |
Associated tissues |
- |
Disease features |
developmental delay, speech delay 0.96 (44/46), motor delay 0.87 (41/47)), hypotonia 0.84 (39/46), optic nerve atrophy 0.83 (30/36), nystagmus (0.82 (37/45),strabismus 0.77 (34/44) |
Remarks |
- |
Date created |
2014-09-25 23:29:40 +02:00 (CEST) |
Date last edited |
2025-02-24 12:35:13 +01:00 (CET) |
Individuals
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