Comparison of the clinical manifestations of the index patient, mocha mice, and AP3β3A deficiency (HPS2) in humans
| Clinical manifestation . | HPS2* . | Patient† . | Mocha mice‡ . |
|---|---|---|---|
| Oculocutaneous albinism | Yes | Yes | Yes |
| Hair hypopigmentation | Yes | Yes | Yes |
| Microcephaly | Yes | Yes | Unknown |
| Low-set ears | Yes | Yes | Unknown |
| Retrognathia | Yes | Yes | Unknown |
| Flat philtrum | Yes | Yes | Unknown |
| Flat acetabula | Yes | Yes | Unknown |
| Infection susceptibility | Yes | Yes | Unknown |
| Epilepsy | No | Yes | Yes |
| Truncal hypotonia | No | Yes | Unknown |
| Deafness | No | Yes | Yes |
| Impaired platelet degranulation | Yes | Unknown | Yes |
| Neutropenia | Yes | Yes | Unknown |
| Impaired NK/cytotoxic T lymphocyte degranulation | Yes | Yes | Unknown |
| Clinical manifestation . | HPS2* . | Patient† . | Mocha mice‡ . |
|---|---|---|---|
| Oculocutaneous albinism | Yes | Yes | Yes |
| Hair hypopigmentation | Yes | Yes | Yes |
| Microcephaly | Yes | Yes | Unknown |
| Low-set ears | Yes | Yes | Unknown |
| Retrognathia | Yes | Yes | Unknown |
| Flat philtrum | Yes | Yes | Unknown |
| Flat acetabula | Yes | Yes | Unknown |
| Infection susceptibility | Yes | Yes | Unknown |
| Epilepsy | No | Yes | Yes |
| Truncal hypotonia | No | Yes | Unknown |
| Deafness | No | Yes | Yes |
| Impaired platelet degranulation | Yes | Unknown | Yes |
| Neutropenia | Yes | Yes | Unknown |
| Impaired NK/cytotoxic T lymphocyte degranulation | Yes | Yes | Unknown |