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Say-Barber-Miller syndrome

ORPHA:3132 · Malformation syndrome · Disorder

HPO 表現型（共 57 項）

Very frequent (99-80%)(4)

Abnormal facial shapeHP:0001999
Global developmental delayHP:0001263
MicrocephalyHP:0000252
Transient hypogammaglobulinemia of infancyHP:0005432

Frequent (79-30%)(20)

Convex nasal ridgeHP:0000444
CraniosynostosisHP:0001363
Decreased circulating immunoglobulin concentrationHP:0004313
Delayed speech and language developmentHP:0000750
Elbow flexion contractureHP:0002987
Erythema nodosumHP:0012219
High palateHP:0000218
HypogonadismHP:0000135
Impaired neutrophil chemotaxisHP:0040238
Knee flexion contractureHP:0006380
MacrotiaHP:0000400
MicrognathiaHP:0000347
Multiple epiphyseal dysplasiaHP:0002654
PanniculitisHP:0012490
Patellar hypoplasiaHP:0003065
Prominent nasal bridgeHP:0000426
Protruding earHP:0000411
Recurrent patellar dislocationHP:0005001
ScoliosisHP:0002650
Sloping foreheadHP:0000340

Occasional (29-5%)(33)

Abnormal T cell morphologyHP:0002843
Abnormality of the hairlineHP:0009553
Ankle clonusHP:0011448
Babinski signHP:0003487
Broad nasal tipHP:0000455
Carious teethHP:0000670
CryptorchidismHP:0000028
Decreased circulating IgG concentrationHP:0004315
Deeply set eyeHP:0000490
Eczematoid dermatitisHP:0000964
Fetal fifth finger clinodactylyHP:0011431
Generalized hyperreflexiaHP:0007034
Highly arched eyebrowHP:0002553
Hip dislocationHP:0002827
HirsutismHP:0001007
HypertelorismHP:0000316
Infantile encephalopathyHP:0007105
Lingual dystoniaHP:0031008
Lower limb hypertoniaHP:0006895
Macular degenerationHP:0000608
Optic atrophyHP:0000648
Posteriorly rotated earsHP:0000358
Rod-cone dystrophyHP:0000510
Rotary nystagmusHP:0001583
Short statureHP:0004322
Sparse eyebrowHP:0045075
Spastic paraparesisHP:0002313
Talipes equinovalgusHP:0001772
Thin vermilion borderHP:0000233
Thoracic kyphoscoliosisHP:0005659
Tooth malpositionHP:0000692
Ulnar deviation of the hand or of fingers of the handHP:0001193
Upslanted palpebral fissureHP:0000582