|
|
(HPO:0000272) | Malar flattening | rare [HPO:skoehler] | 277 / 7739 | |||
|
|
(HPO:0000316) | Hypertelorism | rare [HPO:skoehler] | 644 / 7739 | |||
|
|
(HPO:0000403) | Recurrent otitis media | 61 / 7739 | ||||
|
|
(HPO:0000498) | Blepharitis | 27 / 7739 | ||||
|
|
(HPO:0000509) | Conjunctivitis | 47 / 7739 | ||||
|
|
(HPO:0001029) | Poikiloderma | 23 / 7739 | ||||
|
|
(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
|
|
(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
|
|
(HPO:0004322) | Short stature | 1232 / 7739 | ||||
|
|
(HPO:0006532) | Recurrent pneumonia | 48 / 7739 | ||||
|
|
(HPO:0011800) | Midface retrusion | rare [HPO:skoehler] | 221 / 7739 | |||
|
|
(OMIM) | Eyebrow hypoplasia (in some patients) | 1 / 7739 | ||||
|
|
(OMIM) | Hypermobile fingers - 'beak of swan' appearance (in some patients) | 1 / 7739 | ||||
|
|
(OMIM) | Keratoderma of palms and soles | 2 / 7739 | ||||
|
|
(OMIM) | Pachyonychia | 1 / 7739 | ||||
|
|
(OMIM) | Recurrent infections at variable sites (sinusitis, otitis media, facial cellulitis, adenitis, blepharitis, conjunctivitis, gastroenteritis) | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |