| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 14q13.2 | Neutropenia, severe congenital, 8, autosomal dominant | 618752 | AD | 3 |
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 5p13.2 | Bone marrow failure syndrome 3 | 617052 | AR | 3 |
|
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 15q25.2 | Shwachman-Diamond syndrome 2 | 617941 | AR | 3 | EFL1 | 617538 |
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 7q11.21 | Shwachman-Diamond syndrome 1 | 260400 | AR | 3 | SBDS | 607444 |
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 7q11.21 | {Aplastic anemia, susceptibility to} | 609135 | 3 | |
| Shwachman-Diamond syndrome 1 | 260400 | AR | 3 |
|
|
|
|
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